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FHF1 (FGF12) epileptic encephalopathy.


ABSTRACT: Voltage-gated sodium channels (Navs) are mainstays of neuronal function, and mutations in the genes encoding CNS Navs (Nav1.1 [SCN1A], Nav1.2 [SCN2A], Nav1.3 [SCN3A], and Nav1.6 [SCN8A]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE).1 Fibroblast-growth-factor homologous factors (FHFs) compose a family of 4 proteins that interact with the C-terminal tails of Navs to modulate the channels' fast, and long-term, inactivations.2FHF2 mutation is a rare cause of generalized epilepsy with febrile seizures plus (GEFS+).3 Recently, a de novo FHF1 mutation (p.R52H) was reported in early-onset EE in 2 siblings.4 We report 3 patients from unrelated families with the same FHF1 p.R52H mutation. The 5 cases together frame the FHF1 R52H EE from infancy to adulthood. As discussed below, this gain-of-function disease may be amenable to personalized therapy.

SUBMITTER: Al-Mehmadi S 

PROVIDER: S-EPMC5087254 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature

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Voltage-gated sodium channels (Na<sub>v</sub>s) are mainstays of neuronal function, and mutations in the genes encoding CNS Na<sub>v</sub>s (Na<sub>v</sub>1.1 [<i>SCN1A</i>], Na<sub>v</sub>1.2 [<i>SCN2A</i>], Na<sub>v</sub>1.3 [<i>SCN3A</i>], and Na<sub>v</sub>1.6 [<i>SCN8A</i>]) are causes of some of the most common and severe genetic epilepsies and epileptic encephalopathies (EE).<sup>1</sup> Fibroblast-growth-factor homologous factors (FHFs) compose a family of 4 proteins that interact with t  ...[more]

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