Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome
Abstract Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in SCN1A, the gene encoding the pore‐forming α‐subunit of the NaV1.1 voltage‐gated sodium channel predominantly expressed in the cent...
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| Main Authors: | , , , |
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| Format: | Book |
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Wiley,
2024-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |