IndraLab

Statements

SCN1A activates FHM3. 13 / 13
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"8 However, SCN1A mutations are also associated with FHM3, until now, reported that there are nine SCN1A missense mutation caused FHM3."
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"FHM1, FHM2 and FHM3 are caused by mutations in the ion-channel genes CACNA1A, ATP1A2 and SCN1A, respectively [XREF_BIBR - XREF_BIBR]."
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"Until now, only eight SCN1A missense mutations have been described to cause FHM3."
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"Familial hemiplegic migraine type 3 (FHM3) is seldom caused by mutations in SCN1A (71)."
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"SCN1A has a pleiotropic effect, since variants in this gene have been linked to several phenotypes, and heterozygous mutations in the SCN1A gene can cause a spectrum of early-onset epileptic encephalopathies (MIM #604403, #607208, #619317), FHM3 (MIM #609634) [29], and autism spectrum disorders (ASD) [30]."
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"FHM3 is caused by mutations in the SCN1A gene (sodium voltage-gated channel alpha subunit 1) coding for a sodium channel and has been related to epilepsy syndromes such as Dravet syndrome and generalized epilepsy with febrile seizures plus [21]."
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"FHM3 is caused by mutations in the SCN1A gene that encodes the alpha subunit of the neuronal voltage gated sodium channel [XREF_BIBR]."
| PMC
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"FHM3 caused by SCN1A is considered epidemiologically less frequent than other FHMs."
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"On the other hand, FHM2 and FHM3, caused by mutations of the ATP1A2 gene and SCN1A gene, respectively [13], have not been widely associated with sole MO, corresponding to the theory regarding their different pathophysiology."
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"In the present study, we describe a case of FHM3 caused by the mutation (c.4495T>C) of the SCN1A gene in a Chinese family."
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"FHM3 is caused by mutations in SCN1A, encoding the voltage-gated Na+ channel NaV1.1 predominantly expressed in inhibitory interneurons."
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"The familial hemiplegic migraine type 3 (FHM3) is seldom caused by mutations in SCN1A."
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"FHM is a genetically heterogeneous disease, in which mutations can occur in the ion transportation genes CACNA1A, ATP1A2, and SCN1A, promoting the different types of familial migraines, FHM1, FHM2 and FHM3."
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