Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

Neurology

Volumn 63, Issue 2, 2004, Pages 329-334

  Kanai, Kazuaki ^a,i   Hirose, S ^b   Oguni, H ^c   Fukuma, G ^b   Shirasaka, Y ^d   Miyajima, T ^e   Wada, K ^f   Iwasa, H ^a   Yasumoto, S ^b   Matsuo, M ^g   Ito, M ^h   Mitsudome, A ^b   Kaneko, S ^a  

^a HIROSAKI UNIVERSITY   (Japan)

^b FUKUOKA UNIVERSITY   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^e TOKYO MEDICAL UNIVERSITY   (Japan)

^f HIROSAKI UNIVERSITY   (Japan)

^g SAGA UNIVERSITY   (Japan)

^h Shiga Medical Center for Children   (Japan)

ⁱ CHIBA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL;

ARTICLE; DISEASE SEVERITY; EPILEPSY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SCN1A GENE;

EID: 3242784760     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000129829.31179.5B     Document Type: Article

References (31)

1. Kaneko S, Okada M, Iwasa H, et al. Genetics of epilepsy: current status and perspectives. Neurosci Res 2002;44:11-30.
2. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24:343-345.
3. Wallace RH, Scheffer IE, Barnett S, et al. Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 2001;68:859-865.
4. Escayg A, Heils A, MacDonald BT, et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy. Am J Hum Genet 2001;68:866-873.
5. v1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2001;57:703-705.
6. Abou-Khalil B, Ge Q, Desai R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation. Neurology 2001;57:2265-2272.
7. Fujiwara T, Sugawara T, Mazaki-Miyazaki E, et al. Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures. Brain 2003;126:531-546.
8. Nabbout R, Gennaro E, Dalla Bernardina B, et al. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 2003;60:1961-1967.
9. Annesi G, Gambardella A, Carrideo S, et al. Two novel SCN1A missense mutations in generalized epilepsy with febrile seizure plus. Epilepsia 2003;44:1257-1258.
10. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 2001;68:1327-1332.
11. Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy of infancy. Neurology 2002;58:1122-1124.
12. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 2002;295:17-23.
13. Claes L, Ceulemans B, Audenaert D, et al. De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 2003;21:615-621.
14. + channel al subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Epilepsia 2004;45:140-148.
15. Wallace RH, Hodgson BL, Grinton BE, et al. Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology 2003;61:765-769.
16. Ohmori I, Ohtsuka Y, Ouchida M, et al. Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations? Brain Dev 2003;25:488-493.
17. Commission on Classification and Terminology of the ILAE. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989;30:389-399.
18. Chen Z, Alcayaga C, Suarez-Isla BA, et al. A "minimal" sodium channel construct consisting of ligated S5-P-S6 segments forms a toxin-activatable Ionophore. J Biol Chem 2002;277:24653-24658.
19. Heinemann SH, Terlau H, Stuhmer W, Imoto K, Numa S. Calcium channel characteristics conferred on the sodium channel by single mutations. Nature 1992;356:441-443.
20. Tsushima RG, Li RA, Backx PH. Altered ionic selectivity of the sodium channel revealed by cysteine mutations within the pore. J Gen Physiol 1997;109:463-475.
21. Yamagishi T, Li RA, Hsu K, Marban E, Tomaselli GF. Molecular architecture of the voltage-dependent Na channel: functional evidence for alpha helices in the pore. J Gen Physiol 2001;118:171-182.
22. + channel slow inactivation. Biophys J 2001;80:2221-2230.
23. Hilber K, Sandtner W, Kudlacek O, et al. The selectivity filter of the voltage-gated sodium channel is involved in channel activation. J Biol Chem 2001;276:27831-27839.
24. 2+ dependence of the mammalian α4β2 acetylcholine response. J Physiol 2003;550:11-26.
25. Robbins J. KCNQ potassium channels: physiology, pathophysiology, and pharmacology. Pharmacol Ther 2001;90:1-19.
26. Hirose S, Zenri F, Akiyoshi H, et al. A novel mutation of KCNQ3 (c. 925T->C) in a Japanese family with benign familial neonatal convulsions. Ann Neurol 2000;47:822-826.
27. Spampanato J, Escayg A, Meisler MH, Goldin AL. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J Neurosci 2001;21:7481-7490.
28. v1.1 sodium channels. Neuroscience 2003;116:37-48.
29. Sugawara T, Tsurubuchi Y, Fujiwara T, et al. Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents. Epilepsy Res 2003;54:201-207.
30. v1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci 2001;98:6384-6389.
31. Noebels JL. Exploring new gene discoveries in idiopathic generalized epilepsy. Epilepsia 2003;44 suppl 2:16-21.