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References

  • Brackenbury WJ, Isom LL. (2011) Na+ channel β subunits: overachievers of the ion channel family. Front Pharmacol2:53.
  • Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet68:13271332.
  • Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. (2005) Severe myoclonic epilepsy in infancy (Dravet syndrome). In Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P (Eds) Epileptic syndromes in infancy, childhood and adolescence. 4th ed. John Libbey Eurotext, Montrouge, France, pp. 89113.
  • Engel J Jr. (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia42:796803.
  • Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet24:343345.
  • ILAE. (1989) Commission on Classification and Terminology of the International League Against Epilepsy: Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia30:389399.
  • Nakayama T, Ogiwara I, Ito K, Kaneda M, Mazaki E, Osaka H, Ohtani H, Inoue Y, Fujiwara T, Uematsu M, Haginoya K, Tsuchiya S, Yamakawa K. (2010) Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome. Hum Mutat31:820829.
  • Ogiwara I, Ito K, Sawaishi Y, Osaka H, Mazaki E, Inoue I, Montal M, Hashikawa T, Shike T, Fujiwara T, Inoue Y, Kaneda M, Yamakawa K. (2009) De novo mutations of voltage-gated sodium channel αII gene SCN2A in intractable epilepsies. Neurology73:10461053.
  • Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O’Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL. (2009) A functional null mutation of SCN1B in a patient with Dravet syndrome. J Neurosci29:1076410778.
  • Patino GA, Brackenbury WJ, Bao Y, Lopez-Santiago LF, O’Malley HA, Chen C, Calhoun JD, Lafrenière RG, Cossette P, Rouleau GA, Isom LL. (2011) Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy. J Neurosci31:1457714591.
  • Scheffer IE, Berkovic SF. (1997) Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain120:479490.
  • Scheffer IE, Harkin LA, Grinton BE, Dibbens LM, Turner SJ, Zielinski MA, Xu R, Jackson G, Adams J, Connellan M, Petrou S, Wellard RM, Briellmann RS, Wallace RH, Mulley JC, Berkovic SF. (2007) Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain130:100109.
  • Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B. Nat Genet19:366370.
  • Wimmer VC, Reid CA, Mitchell S, Richards KL, Scaf BB, Leaw BT, Hill EL, Royeck M, Horstmann MT, Cromer BA, Davies PJ, Xu R, Lerche H, Berkovic SF, Beck H, Petrou S. (2010) Axon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus. J Clin Invest120:26612671.