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A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report
SCN8A gene encodes sodium channel alpha subunit Na(v)1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability...
Autores principales: | Keshri, Swasti, Goel, Anil Kumar, Shah, Seema, Garg, Ankit Kumar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Mattioli 1885
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10523044/ https://www.ncbi.nlm.nih.gov/pubmed/35188110 http://dx.doi.org/10.23750/abm.v92iS1.11781 |
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