The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function
Variants of the SCN1A gene encoding the neuronal voltage-gated sodium channel NaV1.1 cause over 85% of all cases of Dravet syndrome, a severe and often pharmacoresistent epileptic encephalopathy with mostly infantile onset. But with the increased availability of genetic testing for patients with epi...
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| Auteurs principaux: | , , , , , , |
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| Format: | article |
| Langue: | EN |
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Frontiers Media S.A.
2021
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| Accès en ligne: | https://doaj.org/article/ec6ce9af36bc4a238ada273bf434f84e |
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