CareLit · DOI-Nachweis · Aktuelle Neurologie
Functional analysis of the A322D mutation in the GABA(A) receptor alpha1 subunit associated with juvenile myoclonic epilepsy
DOI 10.1055/s-2004-833118
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Autor:innenK Krampfl, P Cossette, S Maljevic, N Müller, H Lerche, J Bufler
ZeitschriftAktuelle Neurologie
Ausgabe09/2004
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: Juvenile myoclonic epilepsy (JME) belongs to the most common forms of hereditary epilepsy, the idiopathic generalized epilepsies (IGE). Although the mode of inheritance is usually complex, in some families it appears to be autosomal dominant with a major gene effect of a single mutation. The first mutation in such a three generation JME family was detected recently in the alpha1 subunit of the GABA(A) re…
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Zitierempfehlung
K Krampfl, P Cossette, S Maljevic, N Müller, H Lerche, J Bufler (2004) Functional analysis of the A322D mutation in the GABA(A) receptor alpha1 subunit associated with juvenile myoclonic epilepsy. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2004-833118
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