Article
The GABAA receptor γ2 subunit (R43Q) mutation in febrile seizures.
Pediatric neurology - 1 Apr 2014
Hancili Suna, Önal Zehra Esra, Ata Pınar, Karatoprak Elif Yüksel, Gürbüz Tamay, Bostancı Muharrem, Paçal Yakup, Nuhoğlu Çağatay, Ceran Ömer
Abstract excerpt
BACKGROUND: Febrile seizure is the most common form of childhood seizure. Although its exact cause is unclear, many researchers emphasize the importance of its genetic predisposition. Recent genetic studies revealed the importance of the mutations of the gamma-aminobutyric acid A receptor as the etiology of the febrile seizures. R43Q mutation affecting the γ2-subunit N-terminal domain has been related to...
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