FHF1 (FGF12) epileptic encephalopathy: Table
| Autor: | Fan Xia, Patrick Cossette, Berge A. Minassian, Yaping Yang, Suzanne DeBrosse, Miranda Splitt, Kimberly Dessoffy, Jill A. Rosenfeld, Philippe M. Campeau, Fadi F. Hamdan, Jacques L. Michaud, Venkateswaran Ramesh, Sameer Al-Mehmadi |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Genetics Mutation Sodium channel Epileptic encephalopathy Disease Biology medicine.disease_cause medicine.disease 3. Good health 03 medical and health sciences SCN3A 030104 developmental biology 0302 clinical medicine medicine Neurology (clinical) Personalized therapy Gene Generalized epilepsy with febrile seizures plus 030217 neurology & neurosurgery Genetics (clinical) |
| Zdroj: | Neurology Genetics. 2:e115 |
| ISSN: | 2376-7839 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|