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


ABSTRACT: Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of mutations in patients with GEFS+. No mutations were found in 17 isolated cases of GEFS+. Three novel SCN1A mutations-D188V, V1353L, and I1656M-were found in 36 familial cases; of the remaining 33 families, 3 had mutations in SCN1B. On the basis of SSCA, the combined frequency of SCN1A and SCN1B mutations in familial cases of GEFS+ was found to be 17%.

SUBMITTER: Wallace RH 

PROVIDER: S-EPMC1275639 | biostudies-literature | 2001 Apr

REPOSITORIES: biostudies-literature

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

Wallace R H RH   Scheffer I E IE   Barnett S S   Richards M M   Dibbens L L   Desai R R RR   Lerman-Sagie T T   Lev D D   Mazarib A A   Brand N N   Ben-Zeev B B   Goikhman I I   Singh R R   Kremmidiotis G G   Gardner A A   Sutherland G R GR   George A L AL   Mulley J C JC   Berkovic S F SF  

American journal of human genetics 20010313 4


Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by the presence of febrile and afebrile seizures. The first gene, GEFS1, was mapped to chromosome 19q and was identified as the sodium-channel beta1-subunit, SCN1B. A second locus on chromosome 2q, GEFS2, was recently identified as the sodium-channel alpha1-subunit, SCN1A. Single-stranded conformation analysis (SSCA) of SCN1A was performed in 53 unrelated index cases to estimate the frequency of  ...[more]

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