Malformations of cortical development: clinical features and genetic causes

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

Blümcke, I., Thom, M., Aronica, E., Armstrong, D. D., Vinters, H. V., Palmini, A., Jacques, T. S., AVANZINI, G., Barkovich, A. J., Battaglia, G. S., et al. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02777.x · Cited by 1,746 · see citing works

Greenfield's Neuropathology

(1964) · The Medical Journal of Australia · doi:10.5694/j.1326-5377.1964.tb115841.x · Cited by 1,411 · see citing works

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Vissers, L. E. L. M., van Ravenswaaij‐Arts, C. M. A., Admiraal, R. J. C., Hurst, J. A., Vries, B. B. A. D., Janssen, I. M., van der Vliet, W. A., Huys, E., de Jong, P. J., Hamel, B. C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1407 · Cited by 1,281 · see citing works

A developmental and genetic classification for malformations of cortical development: update 2012

Barkovich, A. J., Guerrini, R., Kuzniecky, R., Jackson, G. D., & Dobyns, W. B. (2012) · Brain · doi:10.1093/brain/aws019 · Cited by 1,110 · see citing works

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

Gleeson, J. G., Allen, K. M., Fox, J. W., Lamperti, E. D., Berkovic, S. F., Scheffer, I. E., Cooper, E. C., Dobyns, W. B., Minnerath, S., Ross, M. E., et al. (1998) · Cell · doi:10.1016/s0092-8674(00)80899-5 · Cited by 1,091 · see citing works

Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats

Reiner, O., Carrozzo, R., Shen, Y. H., Wehnert, M., Faustinella, F., Dobyns, W. B., Caskey, C. T., & Ledbetter, D. H. (1993) · Nature · doi:10.1038/364717a0 · Cited by 1,057 · see citing works

An association between migraine and cutaneous allodynia

Burstein, R., Yarnitsky, D., Goor‐Aryeh, I., Ransil, B. J., & Bajwa, Z. H. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 1,013 · see citing works

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

Hong, S. E., Shugart, Y. Y., Huang, D. T.-C., Shahwan, S. A., Grant, P. E., Hourihane, J. O., Martin, N. D. T., & Walsh, C. A. (2000) · Nature Genetics · doi:10.1038/79246 · Cited by 878 · see citing works

Mutations in filamin 1 Prevent Migration of Cerebral Cortical Neurons in Human Periventricular Heterotopia

Fox, J. W., Lamperti, E. D., Ekşioğlu, Y. Z., Hong, S. E., Feng, Y., Graham, D. A., Scheffer, I. E., Dobyns, W. B., Hirsch, B. A., Radtke, R. A., et al. (1998) · Neuron · doi:10.1016/s0896-6273(00)80651-0 · Cited by 877 · see citing works

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2331 · Cited by 741 · see citing works

A developmental and genetic classification for malformations of cortical development

Barkovich, A. J., Kuzniecky, R., Jackson, G. D., Guerrini, R., & Dobyns, W. B. (2005) · Neurology · doi:10.1212/01.wnl.0000183747.05269.2d · Cited by 719 · see citing works

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

Glaser, T. M., Jepeal, L. I., Edwards, J. G., Young, S. R., Favor, J., & Maas, R. L. (1994) · Nature Genetics · doi:10.1038/ng0894-463 · Cited by 713 · see citing works

Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans

Kitamura, K., Yanazawa, M., Sugiyama, N., Miura, H., Iizuka‐Kogo, A., Kusaka, M., Omichi, K., Suzuki, R., Fukui, Y., Kamiirisa, K., et al. (2002) · Nature Genetics · doi:10.1038/ng1009 · Cited by 708 · see citing works

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2329 · Cited by 703 · see citing works

Somatic mutation, genomic variation, and neurological disease

Poduri, A., Evrony, G. D., Cai, X., & Walsh, C. A. (2013) · Science · doi:10.1126/science.1237758 · Cited by 584 · see citing works

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Kurek, K. C., Luks, V. L., Ayturk, U. M., Alomari, A. I., Fishman, S. J., Spencer, S. A., Mulliken, J. B., Bowen, M. E., Yamamoto, G. L., Kozakewich, H. P., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.006 · Cited by 533 · see citing works

Classification system for malformations of cortical development

Barkovich, A. J., Kuzniecky, R., Jackson, G. D., Guerrini, R., & Dobyns, W. B. (2001) · Neurology · doi:10.1212/wnl.57.12.2168 · Cited by 526 · see citing works

Greenfield's Neuropathology

Bruyn, R. P. M. (2003) · Clinical Neurology and Neurosurgery · doi:10.1016/s0303-8467(02)00110-5 · Cited by 510 · see citing works

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature · doi:10.1038/nature09327 · Cited by 503 · see citing works

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Saintpierre, B., Oger, M., et al. (2013) · Nature Genetics · doi:10.1038/ng.2613 · Cited by 479 · see citing works

Somatic activation of AKT3 causes hemispheric developmental brain malformations

Poduri, A., Evrony, G. D., Cai, X., Elhosary, P. C., Beroukhim, R., Lehtinen, M. K., Hills, L. B., Heinzen, E. L., Hill, A., Hill, R. S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.03.010 · Cited by 478 · see citing works

Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans

Keays, D. A., Tian, G., Poirier, K., Huang, G., Siebold, C., Cleak, J., Oliver, P. L., Fray, M., Harvey, R. J., Molnár, Z., et al. (2007) · Cell · doi:10.1016/j.cell.2006.12.017 · Cited by 454 · see citing works

A Classification Scheme for Malformations of Cortical Development

Barkovich, A. J., Kuzniecky, R., Dobyns, W. B., Jackson, G. D., Becker, L. E., & Evrard, P. (1996) · Neuropediatrics · doi:10.1055/s-2007-973750 · Cited by 400 · see citing works

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

Sheen, V. L., Ganesh, V. S., Topçu, M., Sébire, G., Bodell, A., Hill, R. S., Grant, P. E., Shugart, Y. Y., Imitola, J., Khoury, S. J., et al. (2003) · Nature Genetics · doi:10.1038/ng1276 · Cited by 389 · see citing works

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

Jaglin, X. H., Poirier, K., Saillour, Y., Buhler, E., Tian, G., Bahi‐Buisson, N., Fallet‐Bianco, C., Tuy, F. P. D., Kong, X., Bomont, P., et al. (2009) · Nature Genetics · doi:10.1038/ng.380 · Cited by 380 · see citing works

Pediatric Neurology: Principles and Practice

Swaiman, K. F. (1995) · Medical Entomology and Zoology · Cited by 370 · see citing works

Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations

Parrini, E. (2006) · Brain · doi:10.1093/brain/awl125 · Cited by 365 · see citing works

Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

Kato, M., Das, S., Petras, K., et al. (2004) · Human Mutation · doi:10.1002/humu.10310 · Cited by 332 · see citing works

Congenital bilateral perisylvian syndrome: study of 31 patients

Kuzniecky, R. (1993) · The Lancet · doi:10.1016/0140-6736(93)90363-l · Cited by 325 · see citing works

Mutations in EZH2 Cause Weaver Syndrome

Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R. A., Mungall, A. J. J., Eydoux, P., Babul‐Hirji, R., An, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.018 · Cited by 320 · see citing works

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Rivière, J., van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O’Roak, B. J., Gilissen, C., Gijsen, S. J., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., et al. (2012) · Nature Genetics · doi:10.1038/ng.1091 · Cited by 303 · see citing works

WDR62 is associated with the spindle pole and is mutated in human microcephaly

Nicholas, A. K., Khurshid, M., Désir, J., Carvalho, O. P., Cox, J. J., Thornton, G., Kausar, R., Ansar, M., Ahmad, W., Verloès, A., et al. (2010) · Nature Genetics · doi:10.1038/ng.682 · Cited by 297 · see citing works

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

Yu, T. W., Mochida, G. H., Tischfield, D. J., Sgaier, S. K., Flores‐Sarnat, L., Sergi, C. M., Topçu, M., McDonald, M., Barry, B. J., Felie, J. M., et al. (2010) · Nature Genetics · doi:10.1038/ng.683 · Cited by 294 · see citing works

Congenital cytomegalovirus infection of the brain: imaging analysis and embryologic considerations.

Barkovich, A. J., & Lindan, C. E. (1994) · PubMed · Cited by 293 · see citing works

Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3

Cardoso, C., Leventer, R. J., Ward, H. L., Toyo‐oka, K., Chung, J., Gross, A., Martin, C. L., Allanson, J. E., Pilz, D. T., Olney, A. H., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/374320 · Cited by 289 · see citing works

A STUDY OF THE CONGENITAL CLEFTS IN THE CEREBRAL MANTLE

Yakovlev, P. I., & Wadsworth, R. C. (1946) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-194604000-00003 · Cited by 287 · see citing works

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

Sheen, V. L. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.17.1775 · Cited by 285 · see citing works

SCHIZENCEPHALIES

Yakovlev, P. I., & Wadsworth, R. C. (1946) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-194607000-00001 · Cited by 283 · see citing works

SRPX2 mutations in disorders of language cortex and cognition

Roll, P., Rudolf, G., Pereira, S., Royer, B., Scheffer, I. E., Massacrier, A., Valenti, M., Roëckel, N., Jamali, S., Béclin, C., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl035 · Cited by 277 · see citing works

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

Poirier, K., Saillour, Y., Bahi‐Buisson, N., Jaglin, X. H., Fallet‐Bianco, C., Nabbout, R., Castelnau, L., Roubertie, A., Attié‐Bitach, T., Desguerre, I., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq377 · Cited by 273 · see citing works

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

Leventer, R. J., Jansen, A., Pilz, D. T., Stoodley, N., Marini, C., Dubeau, F., Malone, J., Mitchell, L. A., Mandelstam, S. A., Scheffer, I. E., et al. (2010) · Brain · doi:10.1093/brain/awq078 · Cited by 264 · see citing works

Schizencephaly: correlation of clinical findings with MR characteristics.

Barkovich, A. J., & Kjos, B. O. (1992) · PubMed · Cited by 254 · see citing works

X-linked malformations of neuronal migration

Dobyns, W. B., Andermann, E., Andermann, F., et al. (1996) · Neurology · doi:10.1212/wnl.47.2.331 · Cited by 241 · see citing works

GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination

Li, S., Jin, Z., Koirala, S., Bu, L., Xu, L., Hynes, R. O., Walsh, C. A., Corfas, G., & Piao, X. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.0853-08.2008 · Cited by 241 · see citing works

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

Guerrini, R., Dobyns, W. B., & Barkovich, A. J. (2008) · Trends in Neurosciences · doi:10.1016/j.tins.2007.12.004 · Cited by 240 · see citing works

Megalencephaly‐capillary malformation (MCAP) and megalencephaly‐polydactyly‐polymicrogyria‐hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis

Mirzaa, G., Conway, R. L., Gripp, K. W., Lerman‐Sagie, T., Siegel, D. H., de Vries, L. S., Lev, D., Kramer, N., Hopkins, E., Graham, J. M., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34402 · Cited by 239 · see citing works

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

Sisodiya, S. M., Free, S. L., Williamson, K. A., Mitchell, T. N., Willis, C., Stevens, J., Kendall, B. E., Shorvon, S. D., Hanson, I. M., Moore, A. T., et al. (2001) · Nature Genetics · doi:10.1038/90042 · Cited by 238 · see citing works

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

Alkuraya, F. S., Cai, X., Emery, C., Mochida, G. H., Al-Dosari, M. S., Felie, J. M., Hill, R. S., Barry, B. J., Partlow, J. N., Gascon, G. G., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.003 · Cited by 224 · see citing works

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Boycott, K. M., Flavelle, S. C., Bureau, A., Glass, H. C., Fujiwara, T., Wirrell, E. C., Davey, K., Chudley, A. E., Scott, J. N., McLeod, D. R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/444400 · Cited by 221 · see citing works

Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters

Barkovich, A. J., Guerrini, R., Battaglia, G. S., et al. (1994) · Annals of Neurology · doi:10.1002/ana.410360409 · Cited by 221 · see citing works

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Kumar, R. A., Pilz, D. T., Babatz, T. D., Cushion, T. D., Harvey, K., Topf, M., Yates, L. M., Robb, S. A., Uyanık, G., Mancini, G. M. S., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq182 · Cited by 208 · see citing works

Electroclinical, MRI and neuropathological study of 10 patients with nodular heterotopia, with surgical outcomes

Tassi, L. (2004) · Brain · doi:10.1093/brain/awh357 · Cited by 201 · see citing works

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

Baala, L., Briault, S., Etchevers, H., Laumonnier, F., Natiq, A., Amiel, J., Boddaert, N., Pïcard, C., Sbiti, A., Asermouh, A., et al. (2007) · Nature Genetics · doi:10.1038/ng1993 · Cited by 200 · see citing works

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

Breuss, M. W., Heng, J. I., Poirier, K., Tian, G., Jaglin, X. H., Qu, Z., Braun, A. D., Gstrein, T., Ngo, L., Haas, M., et al. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.11.017 · Cited by 195 · see citing works

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

Ferland, R. J., Bátiz, L. F., Neal, J., Lian, G., Bundock, E. A., Lu, J., Hsiao, Y.-C., Diamond, R. E., Mei, D., Banham, A. H., et al. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn377 · Cited by 189 · see citing works

Focal transmantle dysplasia: A specific malformation of cortical development

Barkovich, A. J., Kuzniecky, R., Bollen, A. W., & Grant, P. E. (1997) · Neurology · doi:10.1212/wnl.49.4.1148 · Cited by 183 · see citing works

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Willemsen, M. H., Vissers, L. E. L. M., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., Vries, B. B. A. D., Schoots, J., Lugtenberg, D., Hamel, B. C. J., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2011-100542 · Cited by 183 · see citing works

Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia

Talos, D. M., Sun, H., Kosaras, B., Joseph, A., Folkerth, R. D., Poduri, A., Madsen, J. R., Black, P. M., & Jensen, F. E. (2011) · Annals of Neurology · doi:10.1002/ana.22696 · Cited by 182 · see citing works

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

Dobyns, W. B., Mirzaa, G., Christian, S. L., Petras, K. S., Roseberry, J. A., Clark, G., Curry, C. J., McDonald‐McGinn, D. M., Medne, L., Zackai, E. H., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32293 · Cited by 173 · see citing works

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

Abdollahi, M. R., Morrison, E. E., Sirey, T., Molnár, Z., Hayward, B. E., Carr, I., Springell, K., Woods, C. G., Ahmed, M., Hattingh, L., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.10.007 · Cited by 170 · see citing works

Syndromes of bilateral symmetrical polymicrogyria.

Barkovich, A. J., Hevner, R. F., & Guerrini, R. (2000) · PubMed · Cited by 169 · see citing works

Multilobar polymicrogyria, intractable drop attack seizures, and sleep-related electrical status epilepticus

Guerrini, R., Genton, P., Bureau, M., Parmeggiani, A., Salas‐Puig, X., Santucci, M., Bonanni, P., Ambrosetto, G., & Dravet, C. (1998) · Neurology · doi:10.1212/wnl.51.2.504 · Cited by 168 · see citing works

Peroxisomal disorders: A review

Fournier, B., Smeitink, J. A. M., DORLAND, L., Berger, R., Saudubray, J., & Poll‐The, B. T. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711362 · Cited by 167 · see citing works

Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

Matsumoto, N., Leventer, R. J., Kuc, J. A., et al. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200548 · Cited by 166 · see citing works

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Tatton‐Brown, K., Hanks, S., Ruark, E., Zachariou, A., Duarte, S. D. V., Ramsay, E., Snape, K. M. G., Murray, A., Perdeaux, E. R., Seal, S., et al. (2011) · Oncotarget · doi:10.18632/oncotarget.385 · Cited by 164 · see citing works

Polymicrogyria and absence of pineal gland due to PAX6 mutation

Mitchell, T. N., Free, S. L., Williamson, K. A., Stevens, J., Churchill, A., Hanson, I. M., Shorvon, S. D., Moore, A. T., van Heyningen, V., & Sisodiya, S. M. (2003) · Annals of Neurology · doi:10.1002/ana.10576 · Cited by 163 · see citing works

Familial schizencephaly associated with EMX2 mutation

Granata, T., Farina, L., Faiella, A., Cardini, R., D’Incerti, L., Boncinelli, E., & Battaglia, G. (1997) · Neurology · doi:10.1212/wnl.48.5.1403 · Cited by 162 · see citing works

Topical Review: Neuronal Migration Disorders, Genetics, and Epileptogenesis

Guerrini, R., & Filippi, T. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200040401 · Cited by 161 · see citing works

Bilateral parasagittal parietooccipital polymicrogyria and epilepsy

Guerrini, R., Dubeau, F., Dulac, O., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410410112 · Cited by 157 · see citing works

Germline and mosaic mutations of FLN1 in men with periventricular heterotopia

Guerrini, R., Mei, D., Sisodiya, S. M., Sicca, F., Harding, B. N., Takahashi, Y., Dorn, T., Yoshida, A., Campistol, J., Krämer, G., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000132818.84827.4d · Cited by 155 · see citing works

Periventricular heterotopia and epilepsy

Huttenlocher, P. R., Taravath, S., & Mojtahedi, S. (1994) · Neurology · doi:10.1212/wnl.44.1.51 · Cited by 155 · see citing works

Focal cortical dysplasia of Taylor's balloon cell type: Mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis

Becker, A. J., Urbach, H., Scheffler, B., et al. (2002) · Annals of Neurology · doi:10.1002/ana.10251 · Cited by 154 · see citing works

Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems

Brooks, A. S., Bertoli‐Avella, A. M., Burzynski, G. M., Breedveld, G. J., Osinga, J., Boven, L. G., Hurst, J. A., Mancini, G. M. S., Lequin, M. H., de Coo, I. F. M., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431244 · Cited by 152 · see citing works

Swaiman's Pediatric Neurology: Principles and Practice

Ashwal, S., Swaiman, K. F., Ferriero, D. M., et al. (2017) · Cited by 150 · see citing works

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

Cushion, T. D., Dobyns, W. B., Mullins, J. G. L., Stoodley, N., Chung, S., Fry, A. E., Hehr, U., Gunny, R. S., Aylsworth, A. S., Prabhakar, P., et al. (2013) · Brain · doi:10.1093/brain/aws338 · Cited by 150 · see citing works

Schizencephaly: clinical and imaging features in 30 infantile cases

Denis, D., Chateil, J., Brun, M., et al. (2000) · Brain and Development · doi:10.1016/s0387-7604(00)00173-x · Cited by 150 · see citing works

Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation

Robin, N. H., Taylor, C. J., McDonald‐McGinn, D. M., Zackai, E. H., Bingham, P. M., Collins, K. J., Earl, D., Gill, D. S., Granata, T., Guerrini, R., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31443 · Cited by 145 · see citing works

Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.012 · Cited by 145 · see citing works

Lissencephaly with Cerebellar Hypoplasia (LCH): A Heterogeneous Group of Cortical Malformations

Ross, M. E., Swanson, K. A., & Dobyns, W. B. (2001) · Neuropediatrics · doi:10.1055/s-2001-19120 · Cited by 136 · see citing works

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Cardoso, C., Boys, A., Parrini, E., Mignon‐Ravix, C., McMahon, J. M., Khantane, S., Bertini, E., Pallesi‐Pocachard, E., Missirian, C., Zuffardi, O., et al. (2008) · Neurology · doi:10.1212/01.wnl.0000336339.08878.2d · Cited by 133 · see citing works

Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Handley, M. T., Morris-Rosendahl, D. J., Brown, S. D. M., MacDonald, F., Hardy, C., Bem, D., Carpanini, S. M., Borck, G., Martorell, L., Izzi, C., et al. (2013) · Human Mutation · doi:10.1002/humu.22296 · Cited by 132 · see citing works

Causal heterogeneity in isolated lissencephaly

Dobyns, W. B., Elias, E. R., Newlin, A. C., et al. (1992) · Neurology · doi:10.1212/wnl.42.7.1375 · Cited by 132 · see citing works

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

Sicca, F., Kelemen, A., Genton, P., Das, S., Mei, D., Moro, F., Dobyns, W. B., & Guerrini, R. (2003) · Neurology · doi:10.1212/wnl.61.8.1042 · Cited by 126 · see citing works

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females

D’Agostino, D. (2002) · Brain · doi:10.1093/brain/awf248 · Cited by 126 · see citing works

EPILEPSY AND FOCAL GYRAL ANOMALIES DETECTED BY MRI: ELECTROCLINICO‐MORPHOLOGICAL CORRELATIONS AND FOLLOW‐UP

Guerrini, R., Dravet, C., Raybaud, C., et al. (1992) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1992.tb11506.x · Cited by 125 · see citing works

Erratum: PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects (Nature Genetics 7 (463-471))

Gläser, T., Jepeal, L. I., Edwards, J. G., Young, S. R., Favor, J., & Maas, R. L. (1994) · Nature Genetics · Cited by 125 · see citing works

Genotypically Defined Lissencephalies Show Distinct Pathologies

Forman, M. S., Squier, W., Dobyns, W. B., & Golden, J. A. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/01.jnen.0000182978.56612.41 · Cited by 123 · see citing works

Bilateral frontal polymicrogyria

Guerrini, R., Barkovich, A. J., Sztriha, L., & Dobyns, W. B. (2000) · Neurology · doi:10.1212/wnl.54.4.909 · Cited by 122 · see citing works

A Locus for Bilateral Perisylvian Polymicrogyria Maps to Xq28

Villard, L., Nguyen, K., Cardoso, C., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/339433 · Cited by 122 · see citing works

Peroxisomal Disorders: A Review

Wanders, R. J. A., Schutgens, R. B. H., & Barth, P. G. (1995) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199509000-00016 · Cited by 121 · see citing works

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.008 · Cited by 121 · see citing works

Contralateral hemimicrencephaly and clinical–pathological correlations in children with hemimegalencephaly

Salamon, N., Andres, M., Chute, D. J., Nguyen, S. T. T., Chang, J. W., Huynh, M. N., Chandra, P. S., André, V., Cepeda, C., Levine, M. S., et al. (2005) · Brain · doi:10.1093/brain/awh681 · Cited by 120 · see citing works

Prenatal diagnosis of malformations of cortical development by dedicated neurosonography

Malinger, G., Kidron, D., Schreiber, L., Ben‐Sira, L., Hoffmann, C., Lev, D., & Lerman‐Sagie, T. (2007) · Ultrasound in Obstetrics and Gynecology · doi:10.1002/uog.3906 · Cited by 117 · see citing works

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Conti, V., Carabalona, A., Pallesi‐Pocachard, E., et al. (2013) · Brain · doi:10.1093/brain/awt249 · Cited by 109 · see citing works

Neuropathologic findings in surgically treated hemimegalencephaly: immunohistochemical, morphometric, and ultrastructural study

Rosa, M. J. D., Secor, D. L., Barsom, M., Fisher, R. S., & Vinters, H. V. (1992) · Acta Neuropathologica · doi:10.1007/bf00227817 · Cited by 106 · see citing works

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis

Hevner, R. F. (2005) · Acta Neuropathologica · doi:10.1007/s00401-005-1059-8 · Cited by 106 · see citing works

Seizure onset from periventricular nodular heterotopias

Kothare, S. V., VanLandingham, K., Armon, C., et al. (1998) · Neurology · doi:10.1212/wnl.51.6.1723 · Cited by 103 · see citing works

Focal brain malformations: Seizures, signaling, sequencing

Crino, P. B. (2009) · Epilepsia · doi:10.1111/j.1528-1167.2009.02289.x · Cited by 98 · see citing works

MR of Zellweger syndrome.

Barkovich, A. J., & Peck, W. W. (1997) · PubMed Central · Cited by 97 · see citing works

Periventricular heterotopia associated with chromosome 5p anomalies

Sheen, V. L., Wheless, J. W., Bodell, A., et al. (2003) · Neurology · doi:10.1212/01.wnl.0000052689.03214.61 · Cited by 96 · see citing works

Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

Solomon, B. D., Pineda‐Alvarez, D., Balog, J. Z., Hadley, D. W., Gropman, A. L., Nandagopal, R., Han, J. C., Hahn, J. S., Blain, D., Brooks, B. P., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33081 · Cited by 95 · see citing works

Pathology and Pathogenesis

Macdonald, R. L., & Weir, B. (2001) · Elsevier eBooks · doi:10.1016/b978-012464161-7/50006-8 · Cited by 93 · see citing works

Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

Morris-Rosendahl, D. J., Najm, J., Lachmeijer, A. M. A., et al. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.01093.x · Cited by 92 · see citing works

Posterior quadrantic dysplasia or hemi-hemimegalencephaly

D’Agostino, D., Bastos, A. C., Piras, C., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000130459.91445.91 · Cited by 91 · see citing works

Periventricular nodular heterotopia with overlying polymicrogyria

Wieck, G., Leventer, R. J., Squier, W., et al. (2005) · Brain · doi:10.1093/brain/awh658 · Cited by 90 · see citing works

LARGE DEFECTS IN CEREBRAL HEMISPHERES ASSOCIATED WITH CORTICAL DYSGENESIS

Dekaban, A. S. (1965) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-196507000-00011 · Cited by 88 · see citing works

Porencephaly with microgyria: A pathologic study

Levine, D. N., Fisher, M., & Caviness, V. S. (1974) · Acta Neuropathologica · doi:10.1007/bf00684769 · Cited by 87 · see citing works

[18F]Fluorodeoxyglucose positron emission tomography in the diagnosis of cancer in patients with paraneoplastic neurological syndrome and anti-Hu antibodies

Antoine, J.-C. G., Cinotti, L., Tilikete, C., Bouhour, F., Camdessanch�, J. P., Confavreux, C., Vighetto, A., Renault‐Mannel, V., Michel, D., & Honnorat, J. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200007)48:1 · Cited by 86 · see citing works

The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia

Dobyns, W. B. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2009.02433.x · Cited by 85 · see citing works

NEUROLOGICAL FINDINGS AND SEIZURE OUTCOME IN CHILDREN WITH BILATERAL OPERCULAR MACROGYRIC‐LIKE CHANGES DETECTED BY MRI

Guerrini, R., Dravet, C., Raybaud, C., et al. (1992) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1992.tb11505.x · Cited by 84 · see citing works

Detection of human papillomavirus in human focal cortical dysplasia type IIB

Chen, J., Tsai, V., Parker, W. E., Aronica, E., Baybis, M., & Crino, P. B. (2012) · Annals of Neurology · doi:10.1002/ana.23795 · Cited by 83 · see citing works

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers

Lehnert, W., Wendel, U., Lindenmaier, S., et al. (1982) · European Journal of Pediatrics · doi:10.1007/bf00442081 · Cited by 83 · see citing works

Megalencephaly: Types, clinical syndromes, and management

DeMyer, W. E. (1986) · Pediatric Neurology · doi:10.1016/0887-8994(86)90072-x · Cited by 81 · see citing works

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

Carabalona, A., Beguin, S., Pallesi‐Pocachard, E., Buhler, E., Pellegrino, C., Arnaud, K., Hubert, P., Oualha, M., Siffroi, J. P., Khantane, S., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr531 · Cited by 81 · see citing works

Multiple Acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers

B�hm, N., Uy, J., Kie�ling, M., et al. (1982) · European Journal of Pediatrics · doi:10.1007/bf00442082 · Cited by 80 · see citing works

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation

Zaki, M. S., Shehab, M. I. K., Aleem, A. K. A., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31667 · Cited by 77 · see citing works

The changing MR imaging appearance of polymicrogyria: a consequence of myelination.

Takanashi, J., & Barkovich, A. J. (2003) · PubMed · Cited by 77 · see citing works

The MR spectrum of peroxisomal disorders

van der Knaap, M. S., & Valk, J. (1991) · Neuroradiology · doi:10.1007/bf00593330 · Cited by 76 · see citing works

Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia

Haverfield, E. V., Whited, A. J., Petras, K. S., Dobyns, W. B., & Das, S. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.213 · Cited by 73 · see citing works

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

McLarren, K. W., Severson, T., du Souich, C., Stockton, D. W., Kratz, L. E., Cunningham, D., Hendson, G., Morin, R. D., Wu, D., Paul, J. E., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.11.004 · Cited by 72 · see citing works

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

Boycott, K. M., Bönnemann, C. G., Herz, J., Neuert, S., Beaulieu, C. L., Scott, J. N., Venkatasubramanian, A., & Parboosingh, J. S. (2009) · Journal of Child Neurology · doi:10.1177/0883073809332696 · Cited by 71 · see citing works

Nonsyndromic mental retardation and cryptogenic epilepsy in women with Doublecortin gene mutations

Guerrini, R., Moro, F., Andermann, E., Hughes, E., D’Agostino, D., Carrozzo, R., Bernasconi, A., Flinter, F. A., Parmeggiani, L., Volzone, A., et al. (2003) · Annals of Neurology · doi:10.1002/ana.10588 · Cited by 71 · see citing works

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

Guerrini, R., Mei, D., Cordelli, D. M., Pucatti, D., Franzonı, E., & Parrini, E. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.21 · Cited by 67 · see citing works

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

Cellini, E., Disciglio, V., Novara, F., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35416 · Cited by 65 · see citing works

Epidemiology of hemimegalencephaly: A case series and review

Tinkle, B. T., Schorry, E. K., Franz, D. N., et al. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31024 · Cited by 64 · see citing works

Fgf receptor 3 activation promotes selective growth and expansion of occipitotemporal cortex

Thomson, R. E., Kind, P. C., Graham, N., Etherson, M. L., Kennedy, J., Fernandes, A. C., Marques, C. S., Hevner, R. F., & Iwata, T. (2009) · Neural Development · doi:10.1186/1749-8104-4-4 · Cited by 63 · see citing works

Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.

Portes, V. D., Pinard, J.-M., Smadja, D., et al. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.3.177 · Cited by 60 · see citing works

No major role for the EMX2 gene in schizencephaly

Merello, E., Swanson, E., Marco, P. D., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32264 · Cited by 59 · see citing works

Bilateral perisylvian polymicrogyria in three generations

Borgatti, R., Triulzi, F. M., Zucca, C., et al. (1999) · Neurology · doi:10.1212/wnl.52.9.1910 · Cited by 59 · see citing works

Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero

Salmi, M., Bruneau, N., Cillario, J., Lozovaya, N., Massacrier, A., Buhler, E., Cloarec, R., Tsintsadze, T. S., Françoise Watrin, A., Tsintsadze, V., et al. (2013) · Brain · doi:10.1093/brain/awt161 · Cited by 59 · see citing works

Activation of Akt independent of PTEN and CTMP tumor-suppressor gene mutations in epilepsy-associated Taylor-type focal cortical dysplasias

Schick, V. C., Majores, M., Engels, G., Spitoni, S., Koch, A., Elger, C. E., Simon, M., Knobbe-Thomsen, C. B., Blümcke, I., & Becker, A. J. (2006) · Acta Neuropathologica · doi:10.1007/s00401-006-0128-y · Cited by 57 · see citing works

Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: Insights into the cause of periventricular heterotopia

Lu, J., Tiao, G., Folkerth, R. D., et al. (2005) · The Journal of Comparative Neurology · doi:10.1002/cne.20806 · Cited by 55 · see citing works

Periventricular nodular heterotopia and Williams syndrome

Ferland, R. J., Gaitanis, J. N., Apse, K. A., Tantravahi, U., Walsh, C. A., & Sheen, V. L. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31259 · Cited by 54 · see citing works

Malformations of Cortical Development and Aberrant Cortical Networks: Epileptogenesis and Functional Organization

Guerrini, R., & Barba, C. (2010) · Journal of Clinical Neurophysiology · doi:10.1097/wnp.0b013e3181fe0585 · Cited by 54 · see citing works

An Epilepsy-Related ARX Polyalanine Expansion Modifies Glutamatergic Neurons Excitability and Morphology Without Affecting GABAergic Neurons Development

Beguin, S., Crépel, V., Aniksztejn, L., Becq, H., Pelosi, B., Pallesi‐Pocachard, E., Bouamrane, L., Pasqualetti, M., Kitamura, K., Cardoso, C., et al. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhs138 · Cited by 53 · see citing works

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

Lecourtois, M., Poirier, K., Friocourt, G., et al. (2010) · Acta Neuropathologica · doi:10.1007/s00401-010-0684-z · Cited by 51 · see citing works

Familial schizencephaly

Hilburger, A. C., Willis, J. K., Bouldin, E., et al. (1993) · Brain and Development · doi:10.1016/0387-7604(93)90072-g · Cited by 51 · see citing works

Early Formative Stage of Human Focal Cortical Gyration Anomalies: Fetal MRI

Righini, A., Parazzini, C., Doneda, C., et al. (2012) · American Journal of Roentgenology · doi:10.2214/ajr.11.6662 · Cited by 50 · see citing works

Pathology and Genetics: Developmental Neuropathology

Stewart, W. B., Jr. (2005) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2005.00685.x · Cited by 49 · see citing works

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere

Chang, B. S., Apse, K. A., Caraballo, R. H., et al. (2006) · Neurology · doi:10.1212/01.wnl.0000191393.06679.e9 · Cited by 48 · see citing works

Schizencephaly: Case report of familial incidence

Hosley, M. A., Abroms, I. F., & Ragland, R. L. (1992) · Pediatric Neurology · doi:10.1016/0887-8994(92)90039-2 · Cited by 46 · see citing works

A CASE OF HISTIDINEMIA CONTROLLED WITH A LOW HISTIDINE DIET

Corner, B., Holton, J. B., Norman, R. M., et al. (1968) · PEDIATRICS · doi:10.1542/peds.41.6.1074 · Cited by 45 · see citing works

Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly

Güven, A., Gündüz, A., Bozoglu, T. M., et al. (2012) · Neurogenetics · doi:10.1007/s10048-012-0326-9 · Cited by 43 · see citing works

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse

Stottmann, R. W., Donlin, M., Hafner, A., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt255 · Cited by 40 · see citing works

Cobblestone Lissencephaly with Normal Eyes and Muscle

Dobyns, W. B., Patton, M. A., Stratton, R. F., et al. (1996) · Neuropediatrics · doi:10.1055/s-2007-973752 · Cited by 39 · see citing works

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

Pisano, T., Barkovich, A. J., Leventer, R. J., Squier, W., Scheffer, I. E., Parrini, E., Blasér, S., Marini, C., Robertson, S. P., Tortorella, G., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e31826aac88 · Cited by 39 · see citing works

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

Backx, L., Fryns, J., Marcelis, C., et al. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33202 · Cited by 37 · see citing works

Weaver syndrome and defective cortical development: A rare association

Alsalem, A. B., Alshammari, M. J., Hassan, H., et al. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35660 · Cited by 28 · see citing works

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

Kolb, L. E., Arlıer, Z., Yalçınkaya, C., Ozturk, A. K., Moliterno, J. A., Çetin, Ö. E., Bayraklı, F., Korkmaz, B., DiLuna, M. L., Yasuno, K., et al. (2010) · Neurogenetics · doi:10.1007/s10048-009-0232-y · Cited by 27 · see citing works

A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

dos Santos, N. F., Secolin, R., Brandão-Almeida, I. L., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32270 · Cited by 27 · see citing works

A3243G mitochondrial mutation associated with polymicrogyria

Keng, W., Pilz, D. T., Minns, B., & FitzPatrick, D. R. (2003) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162203001300 · Cited by 25 · see citing works

Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I

Itoh, K., Pooh, R. K., Kanemura, Y., Yamasaki, M., & Fushiki, S. (2013) · Neuropathology · doi:10.1111/neup.12036 · Cited by 22 · see citing works

A3243G mitochondrial mutation associated with polymicrogyria

Keng, W., Pilz, D., Minns, B., et al. (2003) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2003.tb00874.x · Cited by 21 · see citing works

A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism

Mineyko, A., Doja, A., Hurteau, J., et al. (2009) · Journal of Child Neurology · doi:10.1177/0883073809343312 · Cited by 20 · see citing works

Maple Syrup Urine Disease in an Infant with Microgyria

Martin, J., & Norman, R. M. (1967) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1967.tb02236.x · Cited by 19 · see citing works

Malformations of Cortical Development

Dobyns, W. B., Leventer, R. J., & Guerrini, R. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-37101-8.00029-1 · Cited by 10 · see citing works

Schizencephaly: clinical and imaging features in 30 infantile cases. Brain Dev

Denis, D., Chateil, J., Brun, M., et al. (2001) · Cited by 10 · see citing works

Disturbances in Bulk Growth: Megalencephaly, Micrencephaly, Atelencephaly and Others

Friede, R. L. (1989) · Springer eBooks · doi:10.1007/978-3-642-73697-1_25 · Cited by 9 · see citing works

Brief Report: Life History and Neuropathology of a Gifted Man with Asperger Syndrome

Weidenheim, K. M., Escobar, A., & Rapin, I. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-011-1259-0 · Cited by 9 · see citing works

Disorders of Brain Size

Mirzaa, G., & Dobyns, W. B. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-37101-8.00028-x · Cited by 6 · see citing works

Untitled work

Solano (2000) · doi:10.1002/1531-8249(200002)47:2 · Cited by 3 · see citing works

<scp>ILAE</scp> classification of the epilepsies: Position paper of the <scp>ILAE</scp> Commission for Classification and Terminology

Scheffer, I. E., Berkovic, S., Capovilla, G., Connolly, M. B., French, J., Guilhoto, L., Hirsch, E., Jain, S., Mathern, G. W., Moshé, S. L., et al. (2017) · Epilepsia · doi:10.1111/epi.13709 · Cited by 5,054 · see citing works

Human iPSC-Derived Cerebral Organoids Model Cellular Features of Lissencephaly and Reveal Prolonged Mitosis of Outer Radial Glia

Bershteyn, M., Nowakowski, T. J., Pollen, A. A., Di Lullo, E., Nene, A., Wynshaw-Boris, A., & Kriegstein, A. R. (2017) · Cell Stem Cell · doi:10.1016/j.stem.2016.12.007 · Cited by 566 · see citing works

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Baldassari, S., Ribierre, T., Marsan, E., Adle-Biassette, H., Ferrand-Sorbets, S., Bulteau, C., Dorison, N., Fohlen, M., Polivka, M., Weckhuysen, S., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02061-5 · Cited by 356 · see citing works

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

Guerrini, R., Conti, V., Mantegazza, M., Balestrini, S., Galanopoulou, A. S., & Benfenati, F. (2023) · Physiological Reviews · doi:10.1152/physrev.00063.2021 · Cited by 196 · see citing works

Developmental and epileptic encephalopathies

Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 128 · see citing works

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

Witteveen, J. S., Willemsen, M. H., Dombroski, T. C. D., van Bakel, N. H. M., Nillesen, W. M., van Hulten, J. A., Jansen, E. J. R., Verkaik, D., Veenstra-Knol, H. E., van Ravenswaaij-Arts, C. M. A., et al. (2016) · Nature Genetics · doi:10.1038/ng.3619 · Cited by 128 · see citing works

Scientific Validation of Human Neurosphere Assays for Developmental Neurotoxicity Evaluation

Koch, K., Bartmann, K., Hartmann, J., Kapr, J., Klose, J., Kuchovská, E., Pahl, M., Schlüppmann, K., Zühr, E., & Fritsche, E. (2022) · Frontiers in Toxicology · doi:10.3389/ftox.2022.816370 · Cited by 48 · see citing works

Iconography of abnormal non-neuronal cells in pediatric focal cortical dysplasia type IIb and tuberous sclerosis complex

Zhang, J., Argueta, D., Tong, X., Vinters, H. V., Mathern, G. W., & Cepeda, C. (2025) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2024.1486315 · Cited by 3 · see citing works

CNV-RF Is a Random Forest–Based Copy Number Variation Detection Method Using Next-Generation Sequencing

Onsongo, G., Baughn, L. B., Bower, M., Henzler, C. M., Schomaker, M. L., Silverstein, K. A. T., & Thyagarajan, B. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.07.001 · Cited by 36 · see citing works

Methods for verification of submicroscopic pathogenic copy number variations

Твеленева, А. А., & Шилова, Н. В. (2019) · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · doi:10.25557/2073-7998.2019.03.26-38 · Cited by 1 · see citing works

Global copy number analyses by next generation sequencing provide insight into pig genome variation

Jiang, J., Wang, J., Wang, H., Zhang, Y., Kang, H., Feng, X., Wang, J., Yin, Z., Bao, W., Zhang, Q., et al. (2014) · BMC Genomics · doi:10.1186/1471-2164-15-593 · Cited by 47 · see citing works

New Progress in the Copy Number Variation Study

Li, L. (2009) · Zhongguo sifa jianding

The combination of whole‐exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders

Jiao, Q., Sun, H., Zhang, H., Wang, R., Li, S. T., Sun, D., Yang, X., & Jin, Y. (2019) · Clinical Genetics · doi:10.1111/cge.13548 · Cited by 47 · see citing works