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Mutated SCN1A activates FHM3. 3 / 3
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"However, only ten missense mutations of the SCN1A gene were reported in the literature to cause FHM3 (6), of which the mutation (c.4495T>C) has only been detected in a single Swiss family (5)."
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"FHM is classified into 3 types : FHM1, which is caused by CACNA1A mutations on chromosome 19p13, FHM2, caused by ATP1A2 mutations on chromosome 1q21-23, and FHM3, caused by SCN1A mutations on chromosome 2q24 [XREF_BIBR, XREF_BIBR]."
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"In addition to epilepsy, FHM3, SHM, ASD, sudden death, and AMC can also be caused by SCN1A mutations (Figure 4)."
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