Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works

A framework for variation discovery and genotyping using next-generation DNA sequencing data

DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,216 · see citing works

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009

Berg, A. T., Berkovic, S. F., Brodie, M. J., Buchhalter, J., Cross, J. H., Van Emde Boas, W., Engel, J., French, J., Glauser, T. A., Mathern, G. W., et al. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02522.x · Cited by 4,363 · see citing works

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works

From Ionic Currents to Molecular Mechanisms

Catterall, W. A. (2000) · Neuron · doi:10.1016/s0896-6273(00)81133-2 · Cited by 2,124 · see citing works

Na_v1.1 Localizes to Axons of Parvalbumin-Positive Inhibitory Interneurons: A Circuit Basis for Epileptic Seizures in Mice Carrying an<i>Scn1a</i>Gene Mutation

Ogiwara, I., Miyamoto, H., Morita, N., Atapour, N., Mazaki, E., Inoue, I., Takeuchi, T., Itohara, S., Yanagawa, Y., Obata, K., et al. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.5270-06.2007 · Cited by 879 · see citing works

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

Saitsu, H., Kato, M., Mizuguchi, T., Hamada, K., Osaka, H., Tohyama, J., Uruno, K., Kumada, S., Nishiyama, K., Nishimura, A., et al. (2008) · Nature Genetics · doi:10.1038/ng.150 · Cited by 554 · see citing works

<i>KCNQ2</i> encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Weckhuysen, S., Mandelstam, S., Suls, A., Audenaert, D., Deconinck, T., Claes, L. R. F., Deprez, L., Smets, K., Hristova, D., Yordanova, I., et al. (2012) · Annals of Neurology · doi:10.1002/ana.22644 · Cited by 514 · see citing works

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Weaving, L. S., Christodoulou, J., Williamson, S. L., Friend, K. L., McKenzie, O. L. D., Archer, H. L., Evans, J., Clarke, A. J., Pelka, G. J., Tam, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/426462 · Cited by 501 · see citing works

Clinical application of exome sequencing in undiagnosed genetic conditions

Need, A. C., Shashi, V., Hitomi, Y., Schoch, K., Shianna, K. V., McDonald, M., Meisler, M. H., & Goldstein, D. B. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100819 · Cited by 438 · see citing works

Sodium-channel defects in benign familial neonatal-infantile seizures

Heron, S. E., Crossland, K. M., Andermann, E., Phillips, H. A., Hall, A. J., Bleasel, A., Shevell, M. I., Mercho, S., Seni, M., Guiot, M., et al. (2002) · The Lancet · doi:10.1016/s0140-6736(02)09968-3 · Cited by 378 · see citing works

A missense mutation of the Na + channel α II subunit gene Na v 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

Sugawara, T., Tsurubuchi, Y., Agarwala, K. L., Ito, M., Fukuma, G., Mazaki-Miyazaki, E., Nagafuji, H., Noda, M., Imoto, K., Wada, K., et al. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111065098 · Cited by 378 · see citing works

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

Lemke, J. R., Riesch, E., Scheurenbrand, T., Schubach, M., Wilhelm, C., Steiner, I., Hansen, J., Courage, C., Gallati, S., Bürki, S. E., et al. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03516.x · Cited by 332 · see citing works

Benign familial neonatal‐infantile seizures: Characterization of a new sodium channelopathy

Berkovic, S. F., Heron, S. E., Giordano, L., Marini, C., Guerrini, R., Kaplan, R. E., Gambardella, A., Steinlein, O. K., Grinton, B. E., Dean, J. T., et al. (2004) · Annals of Neurology · doi:10.1002/ana.20029 · Cited by 285 · see citing works

Genotype–phenotype associations in SCN1A -related epilepsies

Zuberi, S. M., Brunklaus, A., Birch, R. C., Reavey, E., Duncan, J., & FORBES, G. (2011) · Neurology · doi:10.1212/wnl.0b013e31820c309b · Cited by 252 · see citing works

De novo mutations of voltage-gated sodium channel α _II gene <i>SCN2A</i> in intractable epilepsies

Ogiwara, I., Ito, K., Sawaishi, Y., Osaka, H., Mazaki, E., Inoue, I., Montal, M., Hashikawa, T., Shike, T., Fujiwara, T., et al. (2009) · Neurology · doi:10.1212/wnl.0b013e3181b9cebc · Cited by 205 · see citing works

A Nonsense Mutation of the Sodium Channel Gene<i>SCN2A</i>in a Patient with Intractable Epilepsy and Mental Decline

Kamiya, K., Kaneda, M., Sugawara, T., Mazaki, E., Okamura, N., Montal, M., Makita, N., Tanaka, M., Fukushima, K., Fujiwara, T., et al. (2004) · The Journal of Neuroscience · doi:10.1523/jneurosci.3089-03.2004 · Cited by 199 · see citing works

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

Liao, Y., Deprez, L., Maljevic, S., Pitsch, J., Claes, L., Hristova, D., Jordanova, A., Ala-Mello, S., Bellan-Koch, A., Blazevic, D., et al. (2010) · Brain · doi:10.1093/brain/awq057 · Cited by 185 · see citing works

A Longer Polyalanine Expansion Mutation in the ARX Gene Causes Early Infantile Epileptic Encephalopathy with Suppression-Burst Pattern (Ohtahara Syndrome)

Kato, M., Saitoh, S., Kamei, A., Shiraishi, H., Ueda, Y., Akasaka, M., Tohyama, J., Akasaka, N., & Hayasaka, K. (2007) · The American Journal of Human Genetics · doi:10.1086/518903 · Cited by 180 · see citing works

Ohtahara syndrome: With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy

Ohtahara, S., & Yamatogi, Y. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2005.11.021 · Cited by 174 · see citing works

Interaction between the sodium channel inactivation linker and domain III S4-S5

Smith, M. R., & Goldin, A. L. (1997) · Biophysical Journal · doi:10.1016/s0006-3495(97)78219-5 · Cited by 166 · see citing works

Comparative distribution of voltage-gated sodium channel proteins in human brain

Whitaker, W. R. J., Faull, R. L. M., Waldvogel, H. J., Plumpton, C., Emson, P. C., & Clare, J. J. (2001) · Molecular Brain Research · doi:10.1016/s0169-328x(00)00289-8 · Cited by 165 · see citing works

Dominant-Negative Mutations in α-II Spectrin Cause West Syndrome with Severe Cerebral Hypomyelination, Spastic Quadriplegia, and Developmental Delay

Saitsu, H., Tohyama, J., Kumada, T., Egawa, K., Hamada, K., Okada, I., Mizuguchi, T., Osaka, H., Miyata, R., Furukawa, T., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.013 · Cited by 151 · see citing works

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

Shi, X., Yasumoto, S., Nakagawa, E., Fukasawa, T., Uchiya, S., & Hirose, S. (2009) · Brain and Development · doi:10.1016/j.braindev.2009.08.009 · Cited by 131 · see citing works

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

Mastrangelo, M., & Leuzzi, V. (2011) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2011.11.003 · Cited by 129 · see citing works

Sodium channels and the neurobiology of epilepsy

Oliva, M., Berkovic, S. F., & Petrou, S. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03631.x · Cited by 124 · see citing works

SCN2A Mutations and Benign Familial Neonatal‐Infantile Seizures: The Phenotypic Spectrum

Herlenius, E., Heron, S. E., Grinton, B. E., Keay, D., Scheffer, I. E., Mulley, J. C., & Berkovic, S. F. (2007) · Epilepsia · doi:10.1111/j.1528-1167.2007.01049.x · Cited by 118 · see citing works

Polyalanine expansion of ARX associated with cryptogenic West syndrome

Kato, M., Das, S., Petras, K. S., Sawaishi, Y., & Dobyns, W. B. (2003) · Neurology · doi:10.1212/01.wnl.0000068012.69928.92 · Cited by 103 · see citing works

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

Saitsu, H., Kato, M., Koide, A., Goto, T., Fujita, T., Nishiyama, K., Tsurusaki, Y., Doi, H., Miyake, N., Hayasaka, K., et al. (2012) · Annals of Neurology · doi:10.1002/ana.23620 · Cited by 93 · see citing works

A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel

Xu, R., Thomas, E. A., Jenkins, M., Gazina, E. V., Chiu, C., Heron, S. E., Mulley, J. C., Scheffer, I. E., Berkovic, S. F., & Petrou, S. (2007) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2007.03.003 · Cited by 84 · see citing works

A Novel SCN2A Mutation in Family with Benign Familial Infantile Seizures

Striano, P., Bordo, L., Lispi, M. L., Specchio, N., Minetti, C., Vigevano, F., & Zara, F. (2006) · Epilepsia · doi:10.1111/j.1528-1167.2006.00392.x · Cited by 83 · see citing works

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

Saitsu, H., Kato, M., Osaka, H., Moriyama, N., Horita, H., Nishiyama, K., Yoneda, Y., Kondo, Y., Tsurusaki, Y., Doi, H., et al. (2012) · Epilepsia · doi:10.1111/j.1528-1167.2012.03548.x · Cited by 79 · see citing works

A new paradigm for West syndrome based on molecular and cell biology

Kato, M. (2006) · Epilepsy Research · doi:10.1016/j.eplepsyres.2006.02.008 · Cited by 68 · see citing works

Differential expression of exon 5 splice variants of sodium channel α subunit mRNAs in the developing mouse brain

Gazina, E. V., Richards, K. L., Mokhtar, M. B. C., Thomas, E. A., Reid, C. A., & Petrou, S. (2010) · Neuroscience · doi:10.1016/j.neuroscience.2009.12.011 · Cited by 63 · see citing works

Distribution of I, II and III subtypes of voltage-sensitive Na+ channel mRNA in the rat brain

Furuyama, T., Morita, Y., Inagaki, S., & Takagi, H. (1993) · Molecular Brain Research · doi:10.1016/0169-328x(93)90087-6 · Cited by 59 · see citing works

Dravet syndrome: The main issues

Guerrini, R. (2012) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2012.04.006 · Cited by 53 · see citing works

Acute encephalopathy with a novel point mutation in the SCN2A gene

Kobayashi, K., Ohzono, H., Shinohara, M., Saitoh, M., Ohmori, I., Ohtsuka, Y., & Mizuguchi, M. (2012) · Epilepsy Research · doi:10.1016/j.eplepsyres.2012.04.016 · Cited by 32 · see citing works

Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures

Shi, Y. ‐., Yu, M. ‐., Long, Y., Qin, B., He, N., Meng, H., Liu, X., Deng, W. ‐., Gao, M., Yi, Y., et al. (2011) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2011.00756.x · Cited by 29 · see citing works

Seizure phenotypes of a family with missense mutations in SCN2A

Ito, M., Shirasaka, Y., Hirose, S., Sugawara, T., & Yamakawa, K. (2004) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2004.02.013 · Cited by 28 · see citing works

Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A

Vecchi, M., Cassina, M., Casarin, A., Rigon, C., Drigo, P., Palma, L. D., & Clementi, M. (2011) · Seizure · doi:10.1016/j.seizure.2011.07.008 · Cited by 25 · see citing works

The genetic landscape of the epileptic encephalopathies of infancy and childhood

McTague, A., Howell, K. B., Cross, J. H., Kurian, M. A., & Scheffer, I. E. (2015) · The Lancet Neurology · doi:10.1016/s1474-4422(15)00250-1 · Cited by 605 · see citing works

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Wolff, M., Johannesen, K. M., Hedrich, U. B. S., Masnada, S., Rubboli, G., Gardella, E., Lesca, G., Ville, D., Milh, M., Villard, L., et al. (2017) · Brain · doi:10.1093/brain/awx054 · Cited by 600 · see citing works

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics · doi:10.1038/ng.3792 · Cited by 559 · see citing works

Predicting the clinical impact of human mutation with deep neural networks

Sundaram, L., Gao, H., Padigepati, S. R., McRae, J. F., Li, Y., Kosmicki, J. A., Fritzilas, N., Hakenberg, J., Dutta, A., Shon, J. C., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0167-z · Cited by 482 · see citing works

Autism genetics: opportunities and challenges for clinical translation

Vorstman, J. A. S., Parr, J. R., Moreno‐De‐Luca, D., Anney, R., Nürnberger, J. I., & Hallmayer, J. F. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.4 · Cited by 466 · see citing works

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Helbig, K. L., Hagman, K. D. F., Shinde, D. N., Mroske, C., Powis, Z., Li, S., Tang, S., & Helbig, I. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.186 · Cited by 368 · see citing works

The hidden genetics of epilepsy—a clinically important new paradigm

Thomas, R. H., & Berkovic, S. F. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.62 · Cited by 297 · see citing works

Exome Sequencing and the Management of Neurometabolic Disorders

Tarailo-Graovac, M., Shyr, C., Ross, C. J., Horvath, G. A., Salvarinova, R., Ye, X. C., Zhang, L.-H., Bhavsar, A. P., Lee, J. J. Y., Drögemöller, B. I., et al. (2016) · New England Journal of Medicine · doi:10.1056/nejmoa1515792 · Cited by 281 · see citing works

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Martin, H. C., Kim, G. J., Pagnamenta, A. T., Murakami, Y., Carvill, G. L., Meyer, E., Copley, R. R., Rimmer, A., Barcia, G., Fleming, M. R., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu030 · Cited by 259 · see citing works

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

Mercimek‐Andrews, S., Patel, J., Cordeiro, D., Hewson, S., Callen, D. F., Donner, E. J., Hahn, C. D., Kannus, P., Kobayashi, J., Minassian, B. A., et al. (2015) · Epilepsia · doi:10.1111/epi.12954 · Cited by 259 · see citing works

Molecular basis for pore blockade of human Na + channel Na v 1.2 by the μ-conotoxin KIIIA

Pan, X., Li, Z., Huang, X., Huang, G., Gao, S., Shen, H., Liu, L., Lei, J., & Yan, N. (2019) · Science · doi:10.1126/science.aaw2999 · Cited by 258 · see citing works

<i>SCN2A</i> encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

Howell, K. B., McMahon, J. M., Carvill, G. L., Tambunan, D., Mackay, M. T., Rodriguez-Casero, V., Webster, R., Clark, D., Freeman, J. L., Calvert, S., et al. (2015) · Neurology · doi:10.1212/wnl.0000000000001926 · Cited by 255 · see citing works

Somatic mosaicism and neurodevelopmental disease

D’Gama, A. M., & Walsh, C. A. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0257-3 · Cited by 238 · see citing works

Axon initial segments: structure, function, and disease

Huang, C. Y., & Rasband, M. N. (2018) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.13718 · Cited by 187 · see citing works

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

Allen, N. M., Conroy, J., Shahwan, A., Lynch, B., Correa, R. G., Pena, S. D. J., McCreary, D., Magalhães, T. R., Ennis, S., Lynch, S. A., et al. (2015) · Epilepsia · doi:10.1111/epi.13250 · Cited by 181 · see citing works

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

Stosser, M. B., Lindy, A. S., Butler, E. A., Retterer, K., Piccirillo-Stosser, C., Richard, G., & McKnight, D. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.114 · Cited by 172 · see citing works

Autism spectrum disorder and epilepsy: Disorders with a shared biology

Lee, B. H., Smith, T., & Paciorkowski, A. R. (2015) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2015.03.017 · Cited by 167 · see citing works

Dravet syndrome—From epileptic encephalopathy to channelopathy

Brunklaus, A., & Zuberi, S. M. (2014) · Epilepsia · doi:10.1111/epi.12652 · Cited by 161 · see citing works

Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

Fernandez, B. A., & Scherer, S. W. (2017) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2017.19.4/sscherer · Cited by 160 · see citing works

Early onset epileptic encephalopathy caused by de novo <i><scp>SCN</scp>8A</i> mutations

Ohba, C., Kato, M., Takahashi, S., Lerman‐Sagie, T., Lev, D., Terashima, H., Kubota, M., Kawawaki, H., Matsufuji, M., Kojima, Y., et al. (2014) · Epilepsia · doi:10.1111/epi.12668 · Cited by 158 · see citing works

Pharmacogenomics in epilepsy

Balestrini, S., & Sisodiya, S. M. (2017) · Neuroscience Letters · doi:10.1016/j.neulet.2017.01.014 · Cited by 158 · see citing works

Genetics and genotype–phenotype correlations in early onset epileptic encephalopathy with burst suppression

Olson, H. E., Kelly, M., LaCoursiere, C. M., Pinsky, R., Tambunan, D. E., Shain, C., Ramgopal, S., Takeoka, M., Libenson, M. H., Jülich, K., et al. (2017) · Annals of Neurology · doi:10.1002/ana.24883 · Cited by 149 · see citing works

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review

Menezes, L. F. S., Júnior, E. F. S., Tibery, D. V., Carneiro, L. D. A., & Schwartz, E. F. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2020.01276 · Cited by 137 · see citing works

Developmental and epileptic encephalopathies: recognition and approaches to care

Raga, S. V., Specchio, N., Rheims, S., & Wilmshurst, J. M. (2021) · Epileptic Disorders · doi:10.1684/epd.2021.1244 · Cited by 134 · see citing works

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

Mastrangelo, M., & Leuzzi, V. (2011) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2011.11.003 · Cited by 129 · see citing works

The phenotypic spectrum of SCN2A-related epilepsy

Reynolds, C., King, M. D., & Gorman, K. M. (2019) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.016 · Cited by 126 · see citing works

Impaired cortico-striatal excitatory transmission triggers epilepsy

Miyamoto, H., Tatsukawa, T., Shimohata, A., Yamagata, T., Suzuki, T., Amano, K., Mazaki, E., Raveau, M., Ogiwara, I., Asaka-Oba, A., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09954-9 · Cited by 121 · see citing works

Understanding Genotypes and Phenotypes in Epileptic Encephalopathies

Helbig, I., & Tayoun, A. N. A. (2016) · Molecular Syndromology · doi:10.1159/000448530 · Cited by 117 · see citing works

Genetic neurological channelopathies: molecular genetics and clinical phenotypes

Spillane, J. E., Kullmann, D. M., & Hanna, M. G. (2015) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2015-311233 · Cited by 116 · see citing works

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice

Ogiwara, I., Miyamoto, H., Tatsukawa, T., Yamagata, T., Nakayama, T., Atapour, N., Miura, E., Mazaki, E., Ernst, S. J., Cao, D., et al. (2018) · Communications Biology · doi:10.1038/s42003-018-0099-2 · Cited by 111 · see citing works

Epileptic Encephalopathies: New Genes and New Pathways

Nieh, S. E., & Sherr, E. H. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0301-2 · Cited by 110 · see citing works

Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel

Butler, K. M., da Silva, C., Alexander, J. J., Hegde, M., & Escayg, A. (2017) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2017.09.003 · Cited by 109 · see citing works

Phenotypic spectrum and genetics of <i> <scp>SCN</scp> 2A </i> ‐related disorders, treatment options, and outcomes in epilepsy and beyond

Wolff, M., Brunklaus, A., & Zuberi, S. M. (2019) · Epilepsia · doi:10.1111/epi.14935 · Cited by 105 · see citing works

Gene variant effects across sodium channelopathies predict function and guide precision therapy

Brunklaus, A., Feng, T., Brünger, T., Pérez‐Palma, E., Heyne, H., Matthews, E. L., Semsarian, C., Symonds, J. D., Zuberi, S. M., Lal, D., et al. (2022) · Brain · doi:10.1093/brain/awac006 · Cited by 105 · see citing works

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

Kato, M., Saitsu, H., Murakami, Y., Kikuchi, K., Watanabe, S., Iai, M., Miya, K., Matsuura, R., Takayama, R., Ohba, C., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000389 · Cited by 103 · see citing works

Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy

Ko, A., Youn, S. E., Kim, S. H., Lee, J. S., Kim, S., Choi, J. R., Kim, H. D., Lee, S., & Kang, H. (2018) · Epilepsy Research · doi:10.1016/j.eplepsyres.2018.02.003 · Cited by 99 · see citing works

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Brunklaus, A., Du, J., Steckler, F., Ghanty, I., Johannesen, K. M., Fenger, C., Schorge, S., Báez-Nieto, D., Wang, H., Allen, A., et al. (2020) · Epilepsia · doi:10.1111/epi.16438 · Cited by 98 · see citing works

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

Schwarz, N., Hahn, A., Bast, T., Müller, S., Löffler, H., Maljevic, S., Gaily, E., Prehl, I., Biskup, S., Joensuu, T., et al. (2016) · Journal of Neurology · doi:10.1007/s00415-015-7984-0 · Cited by 95 · see citing works

Genetic Basis of Sudden Unexpected Death in Epilepsy

Bagnall, R. D., Crompton, D. E., & Semsarian, C. (2017) · Frontiers in Neurology · doi:10.3389/fneur.2017.00348 · Cited by 94 · see citing works

Primer Part 1—The building blocks of epilepsy genetics

Helbig, I., Heinzen, E. L., Mefford, H. C., & the ILAE Genetics Commission (2016) · Epilepsia · doi:10.1111/epi.13381 · Cited by 93 · see citing works

Genotype phenotype associations across the voltage-gated sodium channel family

Brunklaus, A., Ellis, R., Reavey, E., Semsarian, C., & Zuberi, S. M. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102608 · Cited by 92 · see citing works

GRIN 1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

Ohba, C., Shiina, M., Tohyama, J., Haginoya, K., Lerman‐Sagie, T., Okamoto, N., Blumkin, L., Lev, D., Mukaida, S., Nozaki, F., et al. (2015) · Epilepsia · doi:10.1111/epi.12987 · Cited by 92 · see citing works

“Neonatal” NaV1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour

Gazina, E. V., Leaw, B. T. W., Richards, K. L., Wimmer, V. C., Kim, T. H., Aumann, T. D., Featherby, T. J., Churilov, L., Hammond, V. E., Reid, C. A., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu562 · Cited by 89 · see citing works

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

Berecki, G., Howell, K. B., Deerasooriya, Y. H., Cilio, M. R., Oliva, M., Kaplan, D. I., Scheffer, I. E., Berkovic, S. F., & Petrou, S. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1800077115 · Cited by 88 · see citing works

Emerging role of the KCNT1 Slack channel in intellectual disability

Kim, G. E., & Kaczmarek, L. K. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00209 · Cited by 85 · see citing works

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders

Kobayashi, Y., Tohyama, J., Kato, M., Akasaka, N., Magara, S., Kawashima, H., Ohashi, T., Shiraishi, H., Nakashima, M., Saitsu, H., et al. (2016) · Brain and Development · doi:10.1016/j.braindev.2015.09.011 · Cited by 84 · see citing works

Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity

Tatsukawa, T., Raveau, M., Ogiwara, I., Hattori, S., Miyamoto, H., Mazaki, E., Itohara, S., Miyakawa, T., Montal, M., & Yamakawa, K. (2019) · Molecular Autism · doi:10.1186/s13229-019-0265-5 · Cited by 81 · see citing works

SPTAN1 encephalopathy: distinct phenotypes and genotypes

Tohyama, J., Nakashima, M., Nabatame, S., Ch’ng, G.-S., Miyata, R., Rener‐Primec, Z., Kato, M., Matsumoto, N., & Saitsu, H. (2015) · Journal of Human Genetics · doi:10.1038/jhg.2015.5 · Cited by 79 · see citing works

Scn2a Haploinsufficiency in Mice Suppresses Hippocampal Neuronal Excitability, Excitatory Synaptic Drive, and Long-Term Potentiation, and Spatial Learning and Memory

Shin, W., Kweon, H., Kang, R., Kim, D., Kim, K., Kang, M., Kim, S. Y., Hwang, S. N., Kim, J. Y., Yang, E., et al. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00145 · Cited by 78 · see citing works

Precision medicine in genetic epilepsies: break of dawn?

Reif, P., Tsai, M.-H., Helbig, I., Rosenow, F., & Klein, K. (2017) · Expert Review of Neurotherapeutics · doi:10.1080/14737175.2017.1253476 · Cited by 67 · see citing works

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Mina, E. D., Ciccone, R., Brustia, F., Bayindir, B., Limongelli, I., Vetro, A., Iascone, M. R., Pezzoli, L., Bellazzi, R., Perotti, G., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.92 · Cited by 68 · see citing works

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

Ademuwagun, I. A., Rotimi, S. O., Syrbe, S., Ajamma, Y. U., & Adebiyi, E. F. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.600050 · Cited by 68 · see citing works

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Crawford, K., Xian, J., Helbig, K. L., Galer, P. D., Parthasarathy, S., Lewis‐Smith, D., Kaufman, M. C., Fitch, E., Ganesan, S., O’Brien, M., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01120-1 · Cited by 68 · see citing works

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies

Happ, H. C., & Carvill, G. L. (2020) · Epiliepsy currents/Epilepsy currents · doi:10.1177/1535759720906118 · Cited by 67 · see citing works

The landscape of early infantile epileptic encephalopathy in a consanguineous population

Nashabat, M., Qahtani, X. A., Makdob, S. A., Altwaijri, W. A., Baarmah, D., Hundallah, K. J., Alhashem, A. M., Tala, S. A., Maddirevula, S., Alkuraya, F. S., et al. (2019) · Seizure · doi:10.1016/j.seizure.2019.04.018 · Cited by 65 · see citing works

Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features

Morrison‐Levy, N., Borlot, F., Jain, P., & Whitney, R. (2020) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2020.12.001 · Cited by 64 · see citing works

Neonatal Seizures—Are We there Yet?

Ramantani, G., Schmitt, B., Plecko, B., Pressler, R., Wohlrab, G., Klebermaß-Schrehof, K., Hagmann, C. F., Pisani, F., & Boylan, G. B. (2019) · Neuropediatrics · doi:10.1055/s-0039-1693149 · Cited by 63 · see citing works

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

Tavassoli, T., Kolevzon, A. L., Wang, A. T., Curchack, J. T., Halpern, D. B., Schwartz, L., Soffes, S., Bush, L., Grodberg, D., Cai, G., et al. (2014) · BMC Medical Genetics · doi:10.1186/1471-2350-15-35 · Cited by 62 · see citing works

Recent advances in treatment of epilepsy-related sodium channelopathies

Musto, E., Gardella, E., & Møller, R. S. (2019) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.12.009 · Cited by 61 · see citing works

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients

Mei, D., Parrini, E., Marini, C., & Guerrini, R. (2017) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-017-0257-0 · Cited by 59 · see citing works

NaV1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: mutually exclusive distributions of NaV1.1 and NaV1.2

Yamagata, T., Ogiwara, I., Mazaki, E., Yanagawa, Y., & Yamakawa, K. (2017) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2017.08.013 · Cited by 57 · see citing works

Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models

Guerrini, R., Marini, C., & Mantegazza, M. (2014) · Neurotherapeutics · doi:10.1007/s13311-014-0267-0 · Cited by 57 · see citing works

Genetics of Epilepsy in Clinical Practice

Berkovic, S. F. (2015) · Epiliepsy currents/Epilepsy currents · doi:10.5698/1535-7511-15.4.192 · Cited by 52 · see citing works

EEG - A Valuable Biomarker of Brain Injury in Preterm Infants

Pavlidis, E., Lloyd, R. O., & Boylan, G. B. (2017) · Developmental Neuroscience · doi:10.1159/000456659 · Cited by 51 · see citing works

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

Thompson, C. H., Ben‐Shalom, R., Bender, K. J., & George, A. L. (2020) · The Journal of General Physiology · doi:10.1085/jgp.201912442 · Cited by 51 · see citing works

Models for discovery of targeted therapy in genetic epileptic encephalopathies

Maljevic, S., Reid, C. A., & Petrou, S. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.14134 · Cited by 47 · see citing works

Resurgent and Gating Pore Currents Induced by De Novo SCN2A Epilepsy Mutations

Mason, E. R., Wu, F., Patel, R. R., Xiao, Y., Cannon, S. C., & Cummins, T. (2019) · eNeuro · doi:10.1523/eneuro.0141-19.2019 · Cited by 46 · see citing works

Seizures in Mouse Models of Rare Neurodevelopmental Disorders

Fallah, M. S., & Eubanks, J. H. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.01.041 · Cited by 45 · see citing works

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Horvath, G. A., Demos, M. K., Shyr, C., Matthews, A., Zhang, L., Race, S., Stöckler‐Ipsiroglu, S., Allen, M. I. V., Mancarci, B. O., Toker, L., et al. (2015) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.11.008 · Cited by 45 · see citing works

SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?

Kruth, K., Grisolano, T. M., Ahern, C. A., & Williams, A. J. (2020) · Molecular Autism · doi:10.1186/s13229-020-00330-9 · Cited by 44 · see citing works

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures

Wang, J., Gao, H., Bao, X., Zhang, Q., Li, J., Wei, L., Wu, X., Chen, Y., & Yu, S. (2017) · BMC Medical Genetics · doi:10.1186/s12881-017-0460-1 · Cited by 43 · see citing works

Benign and severe early-life seizures: a round in the first year of life

Pavone, P., Corsello, G., Ruggieri, M., Marino, S., Marino, S. D., & Falsaperla, R. (2018) · The Italian Journal of Pediatrics/Italian journal of pediatrics · doi:10.1186/s13052-018-0491-z · Cited by 42 · see citing works

Childhood epilepsy

Menon, R. N., & Cross, J. H. (2025) · The Lancet · doi:10.1016/s0140-6736(25)00773-1 · Cited by 40 · see citing works

Epilepsy and brain channelopathies from infancy to adulthood

Bartolini, E., Campostrini, R., Kiferle, L., Pradella, S., Rosati, E., Chinthapalli, K., & Palumbo, P. J. (2019) · Neurological Sciences · doi:10.1007/s10072-019-04190-x · Cited by 40 · see citing works

Neonatal epilepsy genetics

Axeen, E. T., & Olson, H. E. (2018) · Seminars in Fetal and Neonatal Medicine · doi:10.1016/j.siny.2018.01.003 · Cited by 39 · see citing works

Brain somatic mosaicism in epilepsy: Bringing results back to the clinic

D’Gama, A. M., & Poduri, A. (2023) · Neurobiology of Disease · doi:10.1016/j.nbd.2023.106104 · Cited by 38 · see citing works

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

Berecki, G., Howell, K. B., Heighway, J., Olivier, N. B., Rodda, J., Overmars, I., Vlaskamp, D. R. M., Ware, T. L., Ardern‐Holmes, S. L., Lesca, G., et al. (2022) · Communications Biology · doi:10.1038/s42003-022-03454-1 · Cited by 38 · see citing works

Confirming an expanded spectrum of SCN2A mutations: a case series

Matalon, D. R., Goldberg, E. M., Medne, L., & Marsh, E. D. (2014) · Epileptic Disorders · doi:10.1684/epd.2014.0641 · Cited by 37 · see citing works

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies

Shbarou, R. M., & Mikati, M. A. (2016) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2016.06.002 · Cited by 37 · see citing works

De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

Butler, K. M., da Silva, C., Shafir, Y., Weisfeld‐Adams, J. D., Alexander, J. J., Hegde, M., & Escayg, A. (2016) · Epilepsy Research · doi:10.1016/j.eplepsyres.2016.11.002 · Cited by 37 · see citing works

The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome

Vidal, S., Brandi, N., Pacheco, P., Maynou, J., Fernández, G., Xiol, C., Pascual‐Alonso, A., Pineda, M., O’Callaghan, M., García‐Cazorla, À., et al. (2019) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2019.04.006 · Cited by 36 · see citing works

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures

Saitoh, M., Ishii, A., Ihara, Y., Hoshino, A., Terashima, H., Kubota, M., Kikuchi, K., Yamanaka, G., Amemiya, K., Hirose, S., et al. (2015) · Epilepsy Research · doi:10.1016/j.eplepsyres.2015.08.001 · Cited by 35 · see citing works

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes

Mastrangelo, M. (2015) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2015.04.001 · Cited by 35 · see citing works

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A

Syrbe, S., Zhorov, B. S., Bertsche, A., Bernhard, M. K., Hornemann, F., Mütze, U., Hoffmann, J., Hörtnagel, K., Kieß, W., Hirsch, W., et al. (2016) · Molecular Syndromology · doi:10.1159/000447526 · Cited by 34 · see citing works

The Genetics of the Epilepsies

Achkar, C. M. E., Olson, H. E., Poduri, A., & Pearl, P. L. (2015) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-015-0559-8 · Cited by 34 · see citing works

Roles for Countercharge in the Voltage Sensor Domain of Ion Channels

Groome, J. R., & Bayless-Edwards, L. (2020) · Frontiers in Pharmacology · doi:10.3389/fphar.2020.00160 · Cited by 33 · see citing works

Incorporating Functional Information in Tests of Excess De Novo Mutational Load

Jiang, Y., Han, Y., Petrovski, S., Owzar, K., Goldstein, D. B., & Allen, A. S. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.06.013 · Cited by 30 · see citing works

Episodic ataxia associated with a de novo SCN2A mutation

Leach, E. L., van Karnebeek, C. D. M., Townsend, K. N., Tarailo-Graovac, M., Hukin, J., & Gibson, W. T. (2016) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2016.05.020 · Cited by 32 · see citing works

Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse

Heighway, J., Sedó, A., Garg, A., Eldershaw, L., Perreau, V. M., Berecki, G., Reid, C. A., Petrou, S., & Maljevic, S. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105622 · Cited by 32 · see citing works

Neonatal Seizures

Abend, N. S., Jensen, F. E., Inder, T. E., & Volpe, J. J. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-42876-7.00012-0 · Cited by 31 · see citing works

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

Zerem, A., Lev, D., Blumkin, L., Goldberg‐Stern, H., Michaeli-Yossef, Y., Halevy, A., Kivity, S., Nakamura, K., Matsumoto, N., Leshinsky‐Silver, E., et al. (2014) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2014.04.008 · Cited by 31 · see citing works

Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies

Myers, K. A., & Scheffer, I. E. (2021) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-052120-084449 · Cited by 29 · see citing works

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

Kwong, A. K., Ho, A. C.-C., Fung, C., & Wong, V. C. (2015) · PLoS ONE · doi:10.1371/journal.pone.0126446 · Cited by 29 · see citing works

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet

Su, D.-J., Lu, J., Lin, L., Liang, J., & Hung, K. (2018) · Brain and Development · doi:10.1016/j.braindev.2018.03.005 · Cited by 29 · see citing works

Epileptic Encephalopathies—Clinical Syndromes and Pathophysiological Concepts

von Deimling, M., Helbig, I., & Marsh, E. D. (2017) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-017-0720-7 · Cited by 28 · see citing works

The phenotype and treatment of SCN2A ‐related developmental and epileptic encephalopathy

Kim, H. J., Yang, D., Kim, S. H., Kim, B., Kim, H. D., Lee, J. S., Choi, J. R., Lee, S., & Kang, H. (2020) · Epileptic Disorders · doi:10.1684/epd.2020.1199 · Cited by 27 · see citing works

Inherited Developmental and Epileptic Encephalopathies

Bartolini, E. (2021) · Neurology International · doi:10.3390/neurolint13040055 · Cited by 27 · see citing works

Recent Advances in Neonatal Seizures

Sands, T. T., & McDonough, T. L. (2016) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-016-0694-x · Cited by 26 · see citing works

Gabra2 is a genetic modifier of Dravet syndrome in mice

Hawkins, N. A., Nomura, T., Duarte, S., Barse, L. W., Williams, R. W., Homanics, G. E., Mulligan, M. K., Contractor, A., & Kearney, J. A. (2021) · Mammalian Genome · doi:10.1007/s00335-021-09877-1 · Cited by 27 · see citing works

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet

Wong, V. C. N., Fung, C., & Kwong, A. K. (2014) · Brain and Development · doi:10.1016/j.braindev.2014.10.008 · Cited by 25 · see citing works

Genotype & Phenotype of Ohtahara Syndrome–What's SCN2A Got to Do with It? a Clinician's Read

Buchhalter, J. (2014) · Epiliepsy currents/Epilepsy currents · doi:10.5698/1535-7597-14.5.253 · Cited by 1 · see citing works

The therapeutic implication of a novel SCN2A mutation associated early-onset epileptic encephalopathy with Rett-like features

Liang, J., Lin, L., Yang, M., Wang, J.-S., & Lu, J. (2017) · Brain and Development · doi:10.1016/j.braindev.2017.06.003 · Cited by 15 · see citing works

Recognizing benign neonatal seizures

Plouin, P. (1993) · Electroencephalography and Clinical Neurophysiology · doi:10.1016/0013-4694(93)90895-3

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

Kato, M., Yamagata, T., Kubota, M., Arai, H., Yamashita, S., Nakagawa, T., Fujii, T., Sugai, K., Imai, K., Uster, T., et al. (2013) · Epilepsia · doi:10.1111/epi.12200 · Cited by 226 · see citing works

Exome sequencing identifies a de novo SCN 2 A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Baasch, A., Hüning, I., Gilissen, C., Klepper, J., Veltman, J. A., Gillessen‐Kaesbach, G., Hoischen, A., & Lohmann, K. (2014) · Epilepsia · doi:10.1111/epi.12554 · Cited by 71 · see citing works