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GENATLAS PHENOTYPE |
last update : 18-01-2021 |
Symbol | EIEE90 |
Location | Xq26.3 |
Name | epileptic encephalopathy, early infantile, 90 |
Other name(s) | developmental and epileptic encephalopathy 90 |
Corresponding gene | FGF13 |
Other symbol(s) | DEE90 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | neurology |
Type | disease |
Remark(s) | . heterozygous missense variants in the N-terminal of the A isoform of FHF2 is a cause of EIEE92; variants lead to gain of function because they disrupt the ability of FHF2A to cause long-term inactivation of Nav channels while preserving pro-excitatory properties of FHF2A(PMID: 33245860)) |