PubMed (OMIM) for id: 1779648

Year	Number of Results
1986	1
1991	1
1994	2
1999	2
2000	1
2001	5
2002	4
2003	2
2004	1
2005	4
2024	0

1

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.

Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini RR, Labate A, Carrideo S, Chifari R, Canevini MP, Canger R, Franceschetti S, Annesi G, Wanke E, Quattrone A. Mantegazza M, et al. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. doi: 10.1073/pnas.0506818102. Epub 2005 Dec 2. Proc Natl Acad Sci U S A. 2005. PMID: 16326807 Free PMC article.

2

Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.

Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM. Dichgans M, et al. Lancet. 2005 Jul 30-Aug 5;366(9483):371-7. doi: 10.1016/S0140-6736(05)66786-4. Lancet. 2005. PMID: 16054936

3

SCN1A mutations and epilepsy.

Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. Mulley JC, et al. Hum Mutat. 2005 Jun;25(6):535-42. doi: 10.1002/humu.20178. Hum Mutat. 2005. PMID: 15880351 Review.

4

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin.

Tate SK, Depondt C, Sisodiya SM, Cavalleri GL, Schorge S, Soranzo N, Thom M, Sen A, Shorvon SD, Sander JW, Wood NW, Goldstein DB. Tate SK, et al. Proc Natl Acad Sci U S A. 2005 Apr 12;102(15):5507-12. doi: 10.1073/pnas.0407346102. Epub 2005 Apr 1. Proc Natl Acad Sci U S A. 2005. PMID: 15805193 Free PMC article.

5

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

Kanai K, Hirose S, Oguni H, Fukuma G, Shirasaka Y, Miyajima T, Wada K, Iwasa H, Yasumoto S, Matsuo M, Ito M, Mitsudome A, Kaneko S. Kanai K, et al. Neurology. 2004 Jul 27;63(2):329-34. doi: 10.1212/01.wnl.0000129829.31179.5b. Neurology. 2004. PMID: 15277629 Review.

6

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Claes L, Ceulemans B, Audenaert D, Smets K, Löfgren A, Del-Favero J, Ala-Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P. Claes L, et al. Hum Mutat. 2003 Jun;21(6):615-21. doi: 10.1002/humu.10217. Hum Mutat. 2003. PMID: 12754708

7

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.

Fujiwara T, Sugawara T, Mazaki-Miyazaki E, Takahashi Y, Fukushima K, Watanabe M, Hara K, Morikawa T, Yagi K, Yamakawa K, Inoue Y. Fujiwara T, et al. Brain. 2003 Mar;126(Pt 3):531-46. doi: 10.1093/brain/awg053. Brain. 2003. PMID: 12566275

8

Molecular basis of an inherited epilepsy.

Lossin C, Wang DW, Rhodes TH, Vanoye CG, George AL Jr. Lossin C, et al. Neuron. 2002 Jun 13;34(6):877-84. doi: 10.1016/s0896-6273(02)00714-6. Neuron. 2002. PMID: 12086636 Free article.

9

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.

Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K. Ohmori I, et al. Biochem Biophys Res Commun. 2002 Jul 5;295(1):17-23. doi: 10.1016/s0006-291x(02)00617-4. Biochem Biophys Res Commun. 2002. PMID: 12083760

10

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy.

Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K. Sugawara T, et al. Neurology. 2002 Apr 9;58(7):1122-4. doi: 10.1212/wnl.58.7.1122. Neurology. 2002. PMID: 11940708

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