SCN1A Mutation Associated With Intractable Myoclonic Epilepsy and Migraine Headache
β Scribed by Frosk, P.; Mhanni, A. A.; Rafay, M. F.
- Book ID
- 125848927
- Publisher
- SAGE Publications
- Year
- 2012
- Tongue
- English
- Weight
- 145 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0883-0738
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π SIMILAR VOLUMES
De novo mutations in the SCN1A gene, encoding the alpha1-subunit of the neuronal voltage-gated sodium channel Nav1.1, are the most frequent genetic cause of Severe Myoclonic Epilepsy of Infancy known so far. A few mutations inherited from an asymptomatic or mildly affected parent have been reported,
The recent article by Montfort et al. [2004] reported a functional analysis of 13 glucocerebrosidase alleles, including mutation N188S, which they considered to be a "very mild mutation" or "modifier variant." Our clinical experience with patients carrying this mutation and preliminary protein model