| Literature DB >> 28460589 |
Fanggeng Zou1, Kirsty McWalter1, Lindsay Schmidt1, Amy Decker1, Jonathan D Picker2, Sharyn Lincoln2,3, David A Sweetser3,4, Lauren C Briere3,4, Chellamani Harini5, Eric Marsh6, Livija Medne7, Raymond Y Wang8, Karen Leydiker8, Andrew Mower9, Gepke Visser10, Inge Cuppen10, Koen L van Gassen11, Jasper van der Smagt11, Adeel Yousaf12, Michael Tennison13, Anita Shanmugham1, Elizabeth Butler1, Gabriele Richard1, Dianalee McKnight1.
Abstract
Pathogenic missense and truncating variants in the GABRG2 gene cause a spectrum of epilepsies, from Dravet syndrome to milder simple febrile seizures. In most cases, pathogenic missense variants in the GABRG2 gene segregate with a febrile seizure phenotype. In this case series, we report a recurrent, de novo missense variant (c0.316 G > A; p.A106T) in the GABRG2 gene that was identified in five unrelated individuals. These patients were described to have a more severe phenotype than previously reported for GABRG2 missense variants. Common features include variable early-onset seizures, significant motor and speech delays, intellectual disability, hypotonia, movement disorder, dysmorphic features and vision/ocular issues. Our report further explores a recurrent pathogenic missense variant within the GABRG2 variant family and broadens the spectrum of associated phenotypes for GABRG2-associated disorders.Entities:
Keywords: Epilepsy; GABRG2; genetics; missense; phenotype; seizures
Mesh：
Substances：
Year: 2017 PMID： 28460589 PMCID： PMC6169784 DOI： 10.1080/01677063.2017.1315417
Source DB: PubMed Journal: J Neurogenet ISSN： 0167-7063 Impact factor: 1.250