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SCN8A Publications & References
2020
Ahmad MA, Pottoo FH, Akbar M. Gene therapy repairs for epileptic brain: Potential for treatment and future directions [published online ahead of print, 2020 Jan 31]. Curr Gene Ther. 2020;10.2174/1566523220666200131142423. doi:10.2174/1566523220666200131142423
Brunklaus A. Precision medicine in sodium channelopathies - Moving beyond seizure control towards disease modification. Eur J Paediatr Neurol. 2020;24:7. doi:10.1016/j.ejpn.2020.01.008
Brunklaus A, Du J, Steckler F, et al. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020;61(3):387–399. doi:10.1111/epi.16438
Brunklaus A, Lal D. Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application [published online ahead of print, 2020 Mar 30]. Dev Med Child Neurol. 2020;10.1111/dmcn.14519. doi:10.1111/dmcn.14519
Du J, Simmons S, Brunklaus A, et al. Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders. Eur J Paediatr Neurol. 2020;24:129–133. doi:10.1016/j.ejpn.2019.12.019
Inglis GAS, Wong JC, Butler KM, et al. Mutations in the Scn8a DIIS4 voltage sensor reveal new distinctions among hypomorphic and null Nav 1.6 sodium channels. Genes Brain Behav. 2020;19(4):e12612. doi:10.1111/gbb.12612
Musto E, Gardella E, Møller RS. Recent advances in treatment of epilepsy-related sodium channelopathies. Eur J Paediatr Neurol. 2020;24:123–128. doi:10.1016/j.ejpn.2019.12.009
Pan Y, Cummins TR. Distinct functional alterations in SCN8A epilepsy mutant channels. J Physiol. 2020;598(2):381–401. doi:10.1113/JP278952
Ranza E, Z'Graggen W, Lidgren M, et al. SCN8A heterozygous variants are associated with anoxic-epileptic seizures. Am J Med Genet A. 2020;182(5):1209–1216. doi:10.1002/ajmg.a.61513
Schreiber JM, Tochen L, Brown M, et al. A multi-disciplinary clinic for SCN8A-related epilepsy. Epilepsy Res. 2020;159:106261. doi:10.1016/j.eplepsyres.2019.106261
2019
Balciuniene J, DeChene ET, Akgumus G, et al. Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy. JAMA Netw Open. 2019;2(4):e192129. Published 2019 Apr 5. doi:10.1001/jamanetworkopen.2019.2129
Bunton-Stasyshyn, Rosie K A, and Jacy L Wagnon. Prominent Role of Forebrain Excitatory Neurons in SCN8A Encephalopathy. Brain, vol. 142, no. 2, 2019, pp. 362–375., doi:10.1093/brain/awy324.
Costain G, Cordeiro D, Matviychuk D, Mercimek-Andrews S. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy. Neuroscience. 2019;418:291–310. doi:10.1016/j.neuroscience.2019.08.016
Denis J, Villeneuve N, Cacciagli P, et al. Clinical study of 19 patients with SCN8A-related epilepsy: Two modes of onset regarding EEG and seizures. Epilepsia. 2019;60(5):845–856. doi:10.1111/epi.14727
Epifanio R, Zanotta N, Giorda R, Bardoni A, Zucca C. Novel epilepsy phenotype associated to a known SCN8A mutation. Seizure. 2019;67:15–17. doi:10.1016/j.seizure.2019.01.017
Encinas AC, Moore IKM, Watkins JC, Hammer MF. Influence of age at seizure onset on the acquisition of neurodevelopmental skills in an SCN8A cohort. Epilepsia. 2019;60(8):1711–1720. doi:10.1111/epi.16288
Gan J, Cai Q, Galer P, et al. Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms. Medicine (Baltimore). 2019;98(32):e16782. doi:10.1097/MD.0000000000016782
Gardella E, Møller RS. Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes. Epilepsia. 2019;60 Suppl 3:S77–S85. doi:10.1111/epi.16319
Gertler TS, Carvill GL. SCN8A: When Neurons Are So Excited, They Just Can't Hide It. Epilepsy Curr. 2019;19(4):269–271. doi:10.1177/1535759719858338
Heyne HO, Artomov M, Battke F, et al. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy. Genet Med. 2019;21(11):2496–2503. doi:10.1038/s41436-019-0531-0
Jain, Puneet, et al. 'Breath Holding Spells' in a Child with SCN8A-Related Epilepsy: Expanding the Clinical Spectrum. Seizure, vol. 65, 2019, pp. 129–130., doi:10.1016/j.seizure.2019.01.020.
Jang SS, Kim SY, Kim H, et al. Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life. Front Neurol. 2019;10:988. Published 2019 Sep 13. doi:10.3389/fneur.2019.00988
Johannesen KM, Gardella E, Encinas AC, et al. The spectrum of intermediate SCN8A-related epilepsy. Epilepsia. 2019;60(5):830–844. doi:10.1111/epi.14705
Kim HJ, Yang D, Kim SH, et al. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy. Epilepsy Res. 2019;158:106222. doi:10.1016/j.eplepsyres.2019.106222
Liao YF, Liao CH, Chu YJ, Fan PC. Pharmacotherapy and electroencephalographic evolution in SCN8A encephalopathy: A case report. J Formos Med Assoc. 2019;118(8):1266–1267. doi:10.1016/j.jfma.2019.04.005
Lin KM, Su G, Wang F, et al. A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report. BMC Pediatr. 2019;19(1):400. Published 2019 Nov 1. doi:10.1186/s12887-019-1796-9
Liu Y, Schubert J, Sonnenberg L, et al. Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. Brain. 2019;142(2):376–390. doi:10.1093/brain/awy326
Meisler MH. SCN8A encephalopathy: Mechanisms and models. Epilepsia. 2019;60 Suppl 3(Suppl 3):S86–S91. doi:10.1111/epi.14703
Møller RS, Liebmann N, Larsen LHG, et al. Parental mosaicism in epilepsies due to alleged de novo variants. Epilepsia. 2019;60(6):e63–e66. doi:10.1111/epi.15187
Perucca P, Perucca E. Identifying mutations in epilepsy genes: Impact on treatment selection. Epilepsy Res. 2019;152:18–30. doi:10.1016/j.eplepsyres.2019.03.001
Shrourou, Alina. Study uncovers 11 new genes associated with epilepsy. News Medical. 10 Dec. 2018. AZoNetwork. 16 Jan. 2019.
Sojo, L E, et al. On the Feasibility of Quantifying Sodium Channel Nav 1.6 Protein in Mouse Brain Using Targeted UHPLC-ESI- MRM Mass Spectrometry. Current Neurology and Neuroscience Reports., U.S. National Library of Medicine, 6 Feb. 2019, www.ncbi.nlm.nih.gov/pubmed/30724401.
Sojo LE, Kwan R, Dang C, Tung M, Li J. On the feasibility of quantifying sodium channel Nav 1.6 protein in mouse brain using targeted ultra-high-performance/electrospray ionization multiple reaction monitoring mass spectrometry. Rapid Commun Mass Spectrom. 2019;33(7):683–696. doi:10.1002/rcm.8398
Solé L, Wagnon JL, Akin EJ, Meisler MH, Tamkun MM. The MAP1B Binding Domain of Nav1.6 Is Required for Stable Expression at the Axon Initial Segment. J Neurosci. 2019;39(22):4238–4251. doi:10.1523/JNEUROSCI.2771-18.2019
Trivisano M, Pavia GC, Ferretti A, Fusco L, Vigevano F, Specchio N. Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy. Epilepsy Behav. 2019;96:219–223. doi:10.1016/j.yebeh.2019.03.043
Wengert ER, Saga AU, Panchal PS, Barker BS, Patel MK. Prax330 reduces persistent and resurgent sodium channel currents and neuronal hyperexcitability of subiculum neurons in a mouse model of SCN8A epileptic encephalopathy. Neuropharmacology. 2019;158:107699. doi:10.1016/j.neuropharm.2019.107699
Xie H, Su W, Pei J, et al. De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy. Epilepsy Res. 2019;154:55–61. doi:10.1016/j.eplepsyres.2019.04.005
Zaman, T., Abou Tayoun, A., & Goldberg, E. M. (2019). A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization. Annals of clinical and translational neurology, 6(8), 1445–1455. https://doi.org/10.1002/acn3.50839
2018
Genome-Wide Mega-Analysis Identifies 16 Loci and Highlights Diverse Biological Mechanisms in the Common Epilepsies. Nature Communications, vol. 9, no. 1, 10 Dec. 2018, doi:10.1038/s41467-018-07524-z.
Human Induced Pluripotent Stem Cell-Derived MGE Cell Grafting after Status Epilepticus Attenuates Chronic Epilepsy and Comorbidities via Synaptic Integration. Proceedings of the National Academy of Sciences, vol. 116, no. 1, 2018, pp. 287–296., doi:10.1073/pnas.1814185115.
Ives, James. Scientists work on better and permanent treatment for epilepsy. News Medical. 21 Dec. 2018. AZoNetwork. 16 Jan. 2019.
Lagae, Lieven, et al. A pilot, open‐label study of the effectiveness and tolerability of low‐dose ZX 008 (fenfluramine HC l) in Lennox‐Gastaut syndrome. Epilepsia 59.10 (2018): 1881-1888.
Liu, Jing, et al. Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 11.1 (2018): 48.
Ye, Mingyu. Differential Roles of NaV1.2 and NaV1.6 in Regulating Neuronal Excitability at Febrile Temperature and Distinct Contributions to Febrile Seizures. Scientific Reports, vol. 8, no. 1, 2018, doi:10.1038/s41598-017-17344-8.
2017
Braakman HM, Verhoeven JS, Erasmus CE, Haaxma CA, Willemsen MH, Schelhaas HJ. Phenytoin as a last‐resort treatment in SCN8A encephalopathy. Epilepsia Open. 2017;2(3):343-344. doi:10.1002/epi4.12059.
Dallérac G, Moulard J, Benoist J-F, et al. Non-ketogenic combination of nutritional strategies provides robust protection against seizures. Scientific Reports. 2017;7:5496. doi:10.1038/s41598-017-05542-3
Fung C, Kwong AK, Wong VC. Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy. Epilepsia Open. 2017;2(2):236-243. doi:10.1002/epi4.12055.
G. Avanzini, et al., The impact of genetic and experimental studies on classification and therapy of the epilepsies, Neurosci. Lett. (2017), http://dx.doi.org/10.1016/j.neulet.2017.05.026
González‐Cabrera C, Meza R, Ulloa L, et al. Characterization of the axon initial segment of mice substantia nigra dopaminergic neurons. J Comp Neurol. 2017;525:3529–3542. https://doi.org/10.1002/cne.24288
Johnson KW, Herold KF, Milner TA, Hemmings Jr. HC, Platholi J. Sodium channel subtypes are differentially localized to pre‐ and post‐synaptic sites in rat hippocampus. J Comp Neurol. 2017;525:3563–3578. https://doi.org/10.1002/cne.24291
Lopez-Santiago LF, Yuan Y, Wagnon JL, Hull JM, Frasier CR, O'Malley HA, Meisler MH, Isom LL. Proc Natl Acad Sci U S A. 2017 Feb 13. pii: 201616821. doi: 10.1073/pnas.1616821114
Makinson et al., Regulation of Thalamic and Cortical Network Synchrony by SCN8A, Neuron (2017), http://dx.doi.org/ 10.1016/j.neuron.2017.01.031
Markus Wolff et al., Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders, Brain (2017), Volume 140, Issue 5, 1316–1336
Ottolini M, Barker BS, Gaykema RP, Meisler MH, Patel MK. Aberrant sodium channel currents and hyperexcitability of medial entorhinal cortex neurons in a mouse model of SCN8A encephalopathy. J Neurosci. 2017 Jul 4. pii: 2709-16. doi: 10.1523/JNEUROSCI.2709-16.2017.
Symonds JD, Zuberi SM, Johnson MR. Curr Opin Neurol. 2017 Feb 15. doi: 10.1097/WCO.0000000000000433
Tim Rolvien, Sebastian Butscheidt, Anke Jeschke, Axel Neu, Jonas Denecke, Christian Kubisch, Miriam H. Meisler, Klaus Pueschel, Florian Barvencik, Timur Yorgan, Ralf Oheim, Thorsten Schinke, Michael Amling, Severe bone loss and multiple fractures in -related epileptic encephalopathy, Bone, Volume 103, 2017, Pages 136-143, ISSN 8756-3282, http://dx.doi.org/10.1016/j.bone.2017.06.025.
Yangyang Xiao, Jie Xiong, Ding’an Mao, Lingjuan Liu, Jian Li, Xingfang Li, Haiyan Luo, Liqun Liu, Early-onset epileptic encephalopathy with de novo SCN8A mutation, In Epilepsy Research, Volume 139, 2018, Pages 9-13, ISSN 0920-1211, https://doi.org/10.1016/j.eplepsyres.2017.10.017. http://www.sciencedirect.com/science/article/pii/S0920121117302619
Zhu H, Lin W, Zhao Y, Wang Z, Lao W, Kuang P, Zhou H. Transient upregulation of Nav1.6 expression in the genu of corpus callosum following middle cerebral artery occlusion in the rats, Brain Research Bulletin, Volume 132, 2017, Pages 20-27, ISSN 0361-9230,https://doi.org/10.1016/j.brainresbull.2017.04.008. (http://www.sciencedirect.com/science/article/pii/S0361923016304749)
2016
Barker, B. S., Ottolini, M., Wagnon, J. L., Hollander, R. M., Meisler, M. H. and Patel, M. K. (2016), The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. Epilepsia. doi: 10.1111/epi.13461
Chad R. Frasier, Jacy L. Wagnon, Yangyang Oliver Bao, Luke G. McVeigh, Luis F. Lopez-Santiago, Miriam H. Meisler, and Lori L. Isom. Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy. PNAS 2016 ; published ahead of print October 26, 2016, doi:10.1073/pnas.1612746113.
Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, et al: Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol 79:428-436 (2016).
Hammer MF, Wagnon JL, Mefford HC, et al. SCN8A-Related Epilepsy with Encephalopathy. 2016 Aug 25. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: www.ncbi.nlm.nih.gov/books/NBK379665/
Helbig, I., Heinzen, E. L., Mefford, H. C., the ILAE Genetics Commission (2016), Primer Part 1—The building blocks of epilepsy genetics. Epilepsia, 57: 861–868. doi: 10.1111/epi.13381
Horvath G. A., Demos M., Shyr C., Matthews A., Zhang L., Race S., et al. . (2016). Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: a potential treatment target? Mol. Genet. Metab. 117, 42–48. 10.1016/j.ymgme.2015.11.008
Malcolmson J, Kleyner R, Tegay D, et al. SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harbor Molecular Case Studies. 2016;2(6):a001073. doi:10.1101/mcs.a001073.
McNally MA, Johnson J, Huisman TAGM, Poretti A, Baranano K,Baschat AA, Stafstrom CE, SCN8A epileptic encephalopathy: Detection of fetal seizures guidesmultidisciplinary approach to diagnosis and treatment, Pediatric Neurology (2016), doi: 10.1016/j.pediatrneurol.2016.08.003.
Meisler, M. H., Helman, G., Hammer, M. F., Fureman, B. E., Gaillard, W. D., Goldin, A. L., Hirose, S., Ishii, A., Kroner, B. L., Lossin, C., Mefford, H. C., Parent, J. M., Patel, M., Schreiber, J., Stewart, R., Whittemore, V., Wilcox, K., Wagnon, J. L., Pearl, P. L., Vanderver, A. and Scheffer, I. E. (2016), SCN8A encephalopathy: Research progress and prospect. Epilepsia, 57: 1027–1035. doi: 10.1111/epi.13422
Petty, S. J., Milligan, C. J., Todaro, M., Richards, K. L., Kularathna, P. K., Pagel, C. N., French, C. R., Hill-Yardin, E. L., O'Brien, T. J., Wark, J. D., Mackie, E. J. and Petrou, S. (2016), The antiepileptic medications carbamazepine and phenytoin inhibit native sodium currents in murine osteoblasts. Epilepsia. doi: 10.1111/epi.13474
Trump N, McTague A, Brittain H, et al. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. Journal of Medical Genetics. 2016;53(5):310-317. doi:10.1136/jmedgenet-2015-103263.
2015
Berghuis B, de Kovel CG, van Iterson L, Lamberts RJ, Sander JW, Lindhout D, Koeleman BP. Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy. Epilepsy Res., 115:141-4, 2015.
Blanchard MG, Willemsen MH, Walker JB, Dib-Hajj SD, Waxman SG, Jongmans MC, Kleefstra T, van de Warrenburg BP, Praamstra P, Nicolai J, Yntema HG, Bindels RJ, Meisler MH, Kamsteeg EJ. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. J Med Genet. 52:330-7; 2015.
Deciphering Developmental Disorders S. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 519:223-8; 2015.
Dyment DA, Tetreault M, Beaulieu CL, Hartley T, Ferreira P, Chardon JW, Marcadier J, Sawyer SL, Mosca SJ, Innes AM, Parboosingh JS, Bulman DE, Schwartzentruber J, Majewski J, Tarnopolsky M, Boycott KM, Consortium FC, Care4Rare C. Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study. Clin Genet. 88:34-40.; 2015.
Fung LW, Kwok SL, Tsui KW. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia. 56:1319-20; 2015.
Kong W, Zhang Y, Gao Y, Liu X, Gao K, Xie H, Wang J, Wu Y, Zhang Y, Wu X, Jiang Y. SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability. Epilepsia. 56:431-8; 2015.
Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jahn JA, Jepsen B, Gill D, Docker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, de Kovel CG, Marini C, Specchio N, Djemie T, Weckhuysen S, Tommerup N, Troncoso M, Troncoso L, Bevot A, Wolff M, Hjalgrim H, Guerrini R, Scheffer IE, Mefford HC, Moller RS, Euro ERESCCRP. The phenotypic spectrum of SCN8A encephalopathy. Neurology. 84:480-9; 2015.
McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. 20:176-82; 2015.
Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC, 3rd. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 56:707-16; 2015.
Olson HE, Tambunan D, LaCoursiere C, Goldenberg M, Pinsky R, Martin E, Ho E, Khwaja O, Kaufmann WE, Poduri A. Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A. 167:2017-25; 2015.
Singh R, Jayapal S, Goyal S, Jungbluth H, Lascelles K. Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation. Seizure. 26:69-71; 2015.
2014
de Kovel CG, Meisler MH, Brilstra EH, van Berkestijn FM, van 't Slot R, van Lieshout S, Nijman IJ, O'Brien JE, Hammer MF, Estacion M, Waxman SG, Dib-Hajj SD, Koeleman BP. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. Epilepsy Res. 108:1511-8; 2014;
Estacion M, O'Brien JE, Conravey A, Hammer MF, Waxman SG, Dib-Hajj SD, Meisler MH. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy. Neurobiol Dis. 69:117-23; 2014.
Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H. Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 55:994-1000; 2014.
Vaher U, Noukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T. De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J Child Neurol. 29:NP202-6; 2014.
2013
Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, Kivity S, Mackay MT, Rodriguez-Casero V, Webster R, Korczyn A, Afawi Z, Zelnick N, Lerman-Sagie T, Lev D, Moller RS, Gill D, Andrade DM, Freeman JL, Sadleir LG, Shendure J, Berkovic SF, Scheffer IE, Mefford HC. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nat Genet. 45:825-30; 2013.
Epi4k C, Epilepsy Phenome/Genome P, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. De novo mutations in epileptic encephalopathies. Nature. 501:217-21; 2013.
O'Brien JE, Meisler MH. Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability. Front Genet. 4:213; 2013.
2012
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Ropke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schrock E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 380:1674-82; 2012.
Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet. 90:502-10; 2012.