Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.F129L
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SCN1B

NM_001037.5:p.F129L

Associated Papers

Mutation analysis of candidate genes SCN1B, KCND3 and ANK2 in patients with clinical diagnosis of long QT syndrome.

Raudenská M et al.

Physiological Research, 2008

Role of genetics in the diagnosis and treatment of epilepsy.

Ferraro TN et al.

Expert Review of Neurotherapeutics, 2006

[Mutational analysis of LQT genes in individuals with drug induced QT interval prolongation].

Novotný T et al.

Vnitrni Lekarstvi, 2006

Lack of an association between candidate gene loci and idiopathic generalized epilepsy in Kuwaiti Arab children.

Haider MZ et al.

Journal of Biomedical Science, 2005

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

Wallace RH et al.

Neurology, 2002

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Wallace RH et al.

American Journal of Human Genetics, 2001

[The role of ergometric testing in diagnosis of latent long QT syndrome].

Novotný T et al.

Vnitrni Lekarstvi, 2000

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

Moulard B et al.

American Journal of Human Genetics, 1999

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Wallace RH et al.

Nature Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."