OMIM/604233[Secondary Source ID] - Search Results

Year	Number of Results
2001	2
2003	2
2004	1
2005	1
2006	3
2025	0

1

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.

2

Genes and loci involved in febrile seizures and related epilepsy syndromes.

Audenaert D, Van Broeckhoven C, De Jonghe P. Audenaert D, et al. Hum Mutat. 2006 May;27(5):391-401. doi: 10.1002/humu.20279. Hum Mutat. 2006. PMID: 16550559 Review.

3

A novel GABRG2 mutation associated with febrile seizures.

Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P. Audenaert D, et al. Neurology. 2006 Aug 22;67(4):687-90. doi: 10.1212/01.wnl.0000230145.73496.a2. Neurology. 2006. PMID: 16924025 Clinical Trial.

4

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

5

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E. Depienne C, et al. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9419. Hum Mutat. 2006. PMID: 16541393

6

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P. Claes L, et al. Am J Hum Genet. 2001 Jun;68(6):1327-32. doi: 10.1086/320609. Epub 2001 May 15. Am J Hum Genet. 2001. PMID: 11359211 Free PMC article.

7

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

Spampanato J, Kearney JA, de Haan G, McEwen DP, Escayg A, Aradi I, MacDonald BT, Levin SI, Soltesz I, Benna P, Montalenti E, Isom LL, Goldin AL, Meisler MH. Spampanato J, et al. J Neurosci. 2004 Nov 3;24(44):10022-34. doi: 10.1523/JNEUROSCI.2034-04.2004. J Neurosci. 2004. PMID: 15525788 Free PMC article.

8

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.

Spampanato J, Escayg A, Meisler MH, Goldin AL. Spampanato J, et al. Neuroscience. 2003;116(1):37-48. doi: 10.1016/s0306-4522(02)00698-x. Neuroscience. 2003. PMID: 12535936

9

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity.

Malacarne M, Gennaro E, Madia F, Pozzi S, Vacca D, Barone B, dalla Bernardina B, Bianchi A, Bonanni P, De Marco P, Gambardella A, Giordano L, Lispi ML, Romeo A, Santorum E, Vanadia F, Vecchi M, Veggiotti P, Vigevano F, Viri F, Bricarelli FD, Zara F. Malacarne M, et al. Am J Hum Genet. 2001 Jun;68(6):1521-6. doi: 10.1086/320596. Epub 2001 Apr 20. Am J Hum Genet. 2001. PMID: 11326335 Free PMC article.

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