Somatic activation of AKT3 causes hemispheric developmental brain malformations
Open accessAbstract
Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes, including AKT3, a gene known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G→A, creating p.E17K) that was not present in the patient's blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralog in the brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to the brain could represent an important cause of complex neurogenetic disease.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Somatic mutations identified in human hemimegalencephaly (HMG) reveal the dysregulated PI3K-AKT3-mTOR pathway as the causative mechanism.
“Somatic mutations that were identified in human hemimegalencephaly (HMG) revealed the dysregulated phosphoinositide 3-kinase (PI3K)–AKT3-mTOR pathway as the causative mechanism (Lee et al., 2012; Poduri et al., 2012; Riviere et al., 2012).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Poduri et al., 2012
A recurrent AKT3 mutation (Glu17Lys) was identified in HMG by direct study of resected tissue.
“Direct study of resected tissue led to the identification of a recurrent AKT3 mutation (Glu17Lys) in HMG.”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Poduri et al., 2012
The AKT3 Glu17Lys mutation renders AKT3 constitutively active.
“AKT3 is a RAC-gamma serine/threonine protein kinase that is highly expressed in the developing neocortex, and the Glu17Lys mutation renders AKT3 constitutively active (Lee et al., 2012; Poduri et al., 2012).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Poduri et al., 2012
Levels of mosaicism as low as 8% are sufficient to disrupt the normal architecture and function of the neocortex in HMG.
“Surprisingly, levels of mosaicism as low as 8% are sufficient to disrupt the normal architecture and function of the neocortex in HMG (Evrony et al., 2012; Lee et al., 2012; Poduri et al., 2012; Riviere et al., 2012).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Poduri et al., 2012
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Detection of large-scale variation in the human genome
Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892 · see citing works
Spatio-temporal transcriptome of the human brain
Kang, H. J., Kawasawa, Y. I., Cheng, F., Zhu, Y., Xu, X., Li, M., Sousa, A. M. M., Pletikos, M., Meyer, K. A., Sedmak, G., et al. (2011) · Nature · doi:10.1038/nature10523 · Cited by 2,084 · see citing works
BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources
Wu, C., Orozco, C., Boyer, J., Leglise, M., Goodale, J., Batalov, S., Hodge, C. L., Haase, J., Janes, J. O., Huss, J. W., et al. (2009) · Genome biology · doi:10.1186/gb-2009-10-11-r130 · Cited by 1,374 · see citing works
Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works
Self-citationThe COSMIC (Catalogue of Somatic Mutations in Cancer) database and website
Bamford, S., Dawson, E., Forbes, S. A., Clements, J., Pettett, R., Doǧan, A., Flanagan, A. M., Teague, J. W., Futreal, P. A., Stratton, M. R., et al. (2004) · British Journal of Cancer · doi:10.1038/sj.bjc.6601894 · Cited by 1,248 · see citing works
Evolution of the mutation rate
Lynch, M. (2010) · Trends in Genetics · doi:10.1016/j.tig.2010.05.003 · Cited by 1,138 · see citing works
A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome
Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E., Peters, K. F., Turner, J. T., Cannons, J. L., Bick, D. P., Blakemore, L. C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1104017 · Cited by 892 · see citing works
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works
Rate, molecular spectrum, and consequences of human mutation
Lynch, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912629107 · Cited by 792 · see citing works
Role for Akt3/Protein Kinase Bγ in Attainment of Normal Brain Size
Easton, R., Cho, H., Roovers, K., Shineman, D. W., Mizrahi, M., Forman, M. S., Lee, V. M. ‐., Szabolcs, M. J., de Jong, R., Oltersdorf, T., et al. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.5.1869-1878.2005 · Cited by 551 · see citing works
Profiling Critical Cancer Gene Mutations in Clinical Tumor Samples
MacConaill, L. E., Campbell, C. D., Kehoe, S. M., Bass, A. J., Hatton, C., Niu, L., Davis, M., Yao, K., Hanna, M., Mondal, C., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0007887 · Cited by 434 · see citing works
Self-citationMechanisms and consequences of somatic mosaicism in humans
Youssoufian, H., & Pyeritz, R. E. (2002) · Nature Reviews Genetics · doi:10.1038/nrg906 · Cited by 391 · see citing works
Constitutional Aneuploidy in the Normal Human Brain
Rehen, S. K., Yung, Y. C., McCreight, M. P., Kaushal, D., Yang, A. H., Almeida, B. S. V., Kingsbury, M. A., Cabral, K. M. D. S., McConnell, M. J., Anliker, B., et al. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.4560-04.2005 · Cited by 320 · see citing works
Generation of neuronal variability and complexity
Muotri, A. R., & Gage, F. H. (2006) · Nature · doi:10.1038/nature04959 · Cited by 271 · see citing works
A novel AKT3 mutation in melanoma tumours and cell lines
Davies, M. A., Stemke‐Hale, K., Tellez, C. S., Calderone, T. L., Deng, W., Prieto, V. G., Lazar, A. J., Gershenwald, J. E., & Mills, G. B. (2008) · British Journal of Cancer · doi:10.1038/sj.bjc.6604637 · Cited by 268 · see citing works
LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes?
Singer, T., McConnell, M. J., Marchetto, M. C., Coufal, N. G., & Gage, F. H. (2010) · Trends in Neurosciences · doi:10.1016/j.tins.2010.04.001 · Cited by 268 · see citing works
Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts
Awadalla, P., Gauthier, J., Myers, R. A., Casals, F., Hamdan, F. F., Griffing, A. R., Côté, M., Henrion, É., Spiegelman, D., Tarabeux, J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.019 · Cited by 235 · see citing works
Genetics of intellectual disability
Ropers, H. H. (2008) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2008.07.008 · Cited by 199 · see citing works
An Activating Mutation of AKT2 and Human Hypoglycemia
Hussain, K., Challis, B., Rocha, N., Payne, F., Minic, M., Thompson, A., Daly, A., Scott, C. L., Harris, J. R., Smillie, B. J. L., et al. (2011) · Science · doi:10.1126/science.1210878 · Cited by 178 · see citing works
Boland, E., Clayton‐Smith, J., Woo, V. G. H., McKee, S. A., Manson, F. D. C., Medne, L., Zackai, E. H., Swanson, E. A., FitzPatrick, D. R., Millen, K. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519999 · Cited by 168 · see citing works
Epilepsy genetics — past, present, and future
Poduri, A., & Lowenstein, D. H. (2011) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2011.01.005 · Cited by 166 · see citing works
Self-citationBallif, B. C., Rosenfeld, J. A., Traylor, R. N., Theisen, A. P., Bader, P. I., Ladda, R. L., Sell, S. L., Steinraths, M., Surti, U., McGuire, M., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-1073-y · Cited by 150 · see citing works
Gleeson, J. G., Minnerath, S., Kuzniecky, R., Dobyns, W. B., Young, I. D., Ross, M. E., & Walsh, C. A. (2000) · The American Journal of Human Genetics · doi:10.1086/303043 · Cited by 129 · see citing works
Self-citationQin, W., Chan, J. A.-W., Vinters, H. V., Mathern, G. W., Franz, D. N., Taillon, B. E., Bouffard, P., & Kwiatkowski, D. J. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00416.x · Cited by 121 · see citing works
Messiaen, L. M., Vogt, J., Bengesser, K., Fu, C., Mikhail, F. M., Serra, E., Garcia-Linares, C., Cooper, D. N., Lázaro, C., & Kehrer‐Sawatzki, H. (2010) · Human Mutation · doi:10.1002/humu.21418 · Cited by 117 · see citing works
Hemimegalencephaly: Part 2. Neuropathology Suggests a Disorder of Cellular Lineage
Flores‐Sarnat, L., Sarnat, H. B., Dávila-Gutiérrez, G., & Álvarez, A. (2003) · Journal of Child Neurology · doi:10.1177/08830738030180111101 · Cited by 109 · see citing works
Surgery for catastrophic epilepsy in infants 6 months of age and younger
Gowda, S., Salazar, F., Bingaman, W. E., et al. (2010) · Journal of Neurosurgery Pediatrics · doi:10.3171/2010.1.peds08301 · Cited by 86 · see citing works
A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice
Tokuda, S., Mahaffey, C. L., Monks, B., Faulkner, C., Birnbaum, M. J., Danzer, S. C., & Frankel, W. N. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq544 · Cited by 69 · see citing works
Griffiths, P., Welch, R., Gardner‐Medwin, D., et al. (1994) · Neuropediatrics · doi:10.1055/s-2008-1073012 · Cited by 68 · see citing works
A 2‐Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
Hill, A. D., Chang, B. S., Hill, R. S., et al. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31776 · Cited by 68 · see citing works
Self-citationPorter, B. E., Judkins, A. R., Clancy, R. R., Duhaime, A., Dlugos, D., & Golden, J. A. (2003) · Neurology · doi:10.1212/01.wnl.0000076487.28227.6e · Cited by 57 · see citing works
A comparison of cell phenotypes in hemimegalencephaly and tuberous sclerosis
Arai, Y., Edwards, V., & Becker, L. E. (1999) · Acta Neuropathologica · doi:10.1007/s004010051101 · Cited by 36 · see citing works
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation
Vogt, J. A., Kohlhase, J., Morlot, S., Kluwe, L., Mautner, V.-F., Cooper, D. N., & Kehrer‐Sawatzki, H. (2011) · Human Mutation · doi:10.1002/humu.21476 · Cited by 35 · see citing works
Rarity ofAKT1andAKT3E17K mutations in squamous cell carcinoma of lung
Do, H., Salemi, R., Murone, C., et al. (2010) · Cell Cycle · doi:10.4161/cc.9.21.13654 · Cited by 26 · see citing works
Hemimegalencephaly and tuberous sclerosis complex
Cartwright, M. S., McCarthy, S. C., & Roach, E. S. (2005) · Neurology · doi:10.1212/01.wnl.0000154465.87255.78 · Cited by 26 · see citing works
A genotype resource for postmortem brain samples from the Autism Tissue Program
Wintle, R. F., Lionel, A. C., Hu, P., Ginsberg, S. D., Pinto, D., Thiruvahindrapduram, B., Wei, J., Marshall, C. R., Pickett, J., Cook, E. H., et al. (2011) · Autism Research · doi:10.1002/aur.173 · Cited by 24 · see citing works
Somatic mosaicism as a basic epileptogenic mechanism?
Lindhout, D. (2008) · Brain · doi:10.1093/brain/awn056 · Cited by 22 · see citing works
Mosaic trisomy 1q: The longest surviving case
Patel, C., Hardy, G., Cox, P. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32959 · Cited by 11 · see citing works
Constitutional partial 1q trisomy mosaicism and Wilms tumor
Mark, H. F. L., Wyandt, H. E., Pan, A., et al. (2005) · Cancer Genetics and Cytogenetics · doi:10.1016/j.cancergencyto.2005.05.012 · Cited by 8 · see citing works
Genetic Disorders of Cerebral Cortical Development
Mochida, G. H., Poduri, A., & Walsh, C. A. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00121-x · Cited by 2 · see citing works
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
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
Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution
Pollen, A. A., Bhaduri, A., Andrews, M. G., Nowakowski, T. J., Meyerson, O. S., Mostajo-Radji, M. A., Di Lullo, E., Alvarado, B., Bedolli, M., Dougherty, M. L., et al. (2019) · Cell · doi:10.1016/j.cell.2019.01.017 · Cited by 600 · 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
Self-citationSingle-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain
Evrony, G. D., Cai, X., Lee, E., Hills, L. B., Elhosary, P. C., Lehmann, H. S., Parker, J. J., Atabay, K. D., Gilmore, E. C., Poduri, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.09.035 · Cited by 548 · see citing works
Self-citationMechanisms of epileptogenesis: a convergence on neural circuit dysfunction
Goldberg, E. M., & Coulter, D. A. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3482 · Cited by 542 · see citing works
Malformations of cortical development: clinical features and genetic causes
Guerrini, R., & Dobyns, W. B. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70040-7 · Cited by 513 · see citing works
Induction of Expansion and Folding in Human Cerebral Organoids
Li, Y., Muffat, J., Omer, A., Bosch, I., Lancaster, M. A., Sur, M., Gehrke, L., Knoblich, J. A., & Jaenisch, R. (2017) · Cell Stem Cell · doi:10.1016/j.stem.2016.11.017 · Cited by 436 · see citing works
Somatic mutations in cerebral cortical malformations
Jamuar, S. S., Lam, A.-T. N., Kircher, M., D’Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., et al. (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1314432 · Cited by 392 · see citing works
Self-citationJansen, L. A., Mirzaa, G. M., Ishak, G. E., O'Roak, B. J., Hiatt, J. B., Roden, W. H., Gunter, S. A., Christian, S. L., Collins, S., Adams, C., et al. (2015) · Brain · doi:10.1093/brain/awv045 · Cited by 364 · 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
Cai, X., Evrony, G. D., Lehmann, H. S., Elhosary, P. C., Mehta, B. K., Poduri, A., & Walsh, C. A. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.07.043 · Cited by 318 · see citing works
Self-citationmTOR signaling and its roles in normal and abnormal brain development
Takei, N., & Nawa, H. (2014) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2014.00028 · Cited by 317 · see citing works
Somatic mosaicism: implications for disease and transmission genetics
Campbell, I. M., Shaw, C. A., Stankiewicz, P., & Lupski, J. R. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.03.013 · Cited by 296 · see citing works
Cell lineage analysis in human brain using endogenous retroelements
Evrony, G. D., Lee, E., Mehta, B. K., Benjamini, Y., Johnson, R. M., Cai, X., Yang, L., Haseley, P., Lehmann, H. S., Park, P. J., et al. (2015) · Neuron · doi:10.1016/j.neuron.2014.12.028 · Cited by 269 · see citing works
Self-citationSomatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies
Keppler‐Noreuil, K. M., Parker, V. E. R., Darling, T. N., & Martinez‐Agosto, J. A. (2016) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31531 · Cited by 270 · see citing works
McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., et al. (2017) · Science · doi:10.1126/science.aal1641 · Cited by 262 · see citing works
Self-citationL1-associated genomic regions are deleted in somatic cells of the healthy human brain
Erwin, J. A., Paquola, A. C. M., Singer, T., Gallina, I., Novotny, M., Quayle, C., Bedrosian, T. A., Alves, F. I. A., Butcher, C. R., Herdy, J. R., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4388 · Cited by 195 · see citing works
Wang, L., Zhou, K., Fu, Z., Yu, D., Huang, H., Zang, X., & Mo, X. (2017) · Journal of Molecular Neuroscience · doi:10.1007/s12031-016-0872-y · Cited by 172 · see citing works
Genetic Changes Shaping the Human Brain
Bae, B.-I., Jayaraman, D., & Walsh, C. A. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.01.035 · Cited by 135 · see citing works
Self-citationPrecise detection of low-level somatic mutation in resected epilepsy brain tissue
Sim, N. S., Ko, A., Kim, W. K., Kim, S. H., Kim, J. S., Shim, K.-W., Aronica, E., Mijnsbergen, C., Spliet, W. G. M., Koh, H. Y., et al. (2019) · Acta Neuropathologica · doi:10.1007/s00401-019-02052-6 · Cited by 137 · see citing works
Zhang, J., Shemezis, J. R., McQuinn, E. R., Wang, J., Sverdlov, M., & Chenn, A. (2013) · Neural Development · doi:10.1186/1749-8104-8-7 · Cited by 107 · see citing works
mTOR-Dependent Cell Proliferation in the Brain
Ryskalin, L., Lazzeri, G., Flaibani, M., Biagioni, F., Gambardella, S., Frati, A., & Fornai, F. (2017) · BioMed Research International · doi:10.1155/2017/7082696 · Cited by 86 · see citing works
GATOR1 complex: the common genetic actor in focal epilepsies
Baldassari, S., Licchetta, L., Tinuper, P., Bisulli, F., & Pippucci, T. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103883 · Cited by 80 · see citing works
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain
Ye, Z., Chatterton, Z., Pflueger, J., Damiano, J. A., McQuillan, L., Simon Harvey, A., Malone, S., Do, H., Maixner, W., Schneider, A., et al. (2021) · Brain Communications · doi:10.1093/braincomms/fcaa235 · Cited by 77 · see citing works
Sarnat, H. B., & Flores-Sarnat, L. (2015) · Brain and Development · doi:10.1016/j.braindev.2014.08.010 · Cited by 73 · see citing works
Sala Frigerio, C., Lau, P., Troakes, C., Deramecourt, V., Gele, P., Van Loo, P., Voet, T., & De Strooper, B. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2015.02.007 · Cited by 71 · see citing works
Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies
McTague, A., Rossignoli, G., Ferrini, A., Barral, S., & Kurian, M. A. (2021) · Frontiers in Genome Editing · doi:10.3389/fgeed.2021.630600 · Cited by 67 · see citing works
Lee, W. S., Baldassari, S., Stephenson, S. E. M., Lockhart, P. J., Baulac, S., & Leventer, R. J. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031344 · Cited by 45 · see citing works
Identifying miRNA-mRNA regulation network of major depressive disorder in ovarian cancer patients.
Wu, C., Zhao, Y., Liu, Y., Yang, X., Yan, M., Min, Y., Pan, Z., Qiu, S., Xia, S., Yu, J., et al. (2018) · Oncology Letters · doi:10.3892/ol.2018.9243 · Cited by 26 · see citing works
A microglia clonal inflammatory disorder in Alzheimer’s disease
Vicario, R., Fragkogianni, S., Weber, L., Lazarov, T., Hu, Y., Hayashi, S. Y., Craddock, B., Socci, N. D., Alberdi, A., Baako, A., et al. (2025) · eLife · doi:10.7554/elife.96519.3 · Cited by 21 · see citing works
- Authors
- 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., Barry, B. J., Bourgeois, B. F. D., Riviello, J. J., Barkovich, A. J., Black, P. M., Ligon, K. L., & Walsh, C. A.
- Affiliations
- Boston Children's Hospital (US)
- Broad Institute (US)
- Duke University (US)
- University of California, San Francisco (US)
- Brigham and Women's Hospital (US)
- Corresponding author
- Walsh, Christopher A.
- ORCID
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2012-04
- Volume
- 74
- Issue
- 1
- Pages
- 41-48
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC3460551
- OpenAlex
- W2013482405
- Cited by
- 478
- References
- 40
- Citations by year
- 2026: 14 · 2025: 23 · 2024: 28 · 2023: 22 · 2022: 30 · 2021: 36 · 2020: 35 · 2019: 36 · 2018: 41 · 2017: 44 · 2016: 32 · 2015: 46 · 2014: 42 · 2013: 37 · 2012: 12
- FWCI
- 38.16
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- National Cancer Institute (P01CA142536)
- National Institute of General Medical Sciences (T32GM007753)
- National Institute of Neurological Disorders and Stroke (R00NS072192, K23NS069784, R01NS035129, K99/R00 NS072192, R01NS079277, K08NS047213, R01NS032457)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD018655)
- Topics
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Keywords
- hemimegalencephaly, AKT3, somatic mutations, brain malformations, epilepsy, AKT1, AKT2, cortical progenitor cells, neurogenesis, neurodevelopmental disorders
- MeSH terms
- Chromosomes, Human, Pair 1, Epilepsy, Humans, Trisomy, Proto-Oncogene Proteins c-akt, Cerebrum, Malformations of Cortical Development, Neurogenesis
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
