| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
SCN8A sodium voltage-gated channel alpha subunit 8 [KO: K04840]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H02362 | Benign familial infantile seizure |
| H02980 | Cognitive impairment with or without cerebellar ataxia |
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| Reference |
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| Authors |
Wagnon JL, Mencacci NE, Barker BS, Wengert ER, Bhatia KP, Balint B, Carecchio M, Wood NW, Patel MK, Meisler MH |
|---|
| Title |
Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus. |
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| Journal |
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| Reference |
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| Authors |
Wagnon JL, Barker BS, Ottolini M, Park Y, Volkheimer A, Valdez P, Swinkels MEM, Patel MK, Meisler MH |
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| Title |
Loss-of-function variants of SCN8A in intellectual disability without seizures. |
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| Journal |
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| LinkDB |
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