Journal article
The epileptology of GNB5 encephalopathy
Gemma Poke, Chontelle King, Alison Muir, Guillem de Valles-Ibanez, Michele Germano, Carolina F Moura de Souza, Jasmine Fung, Brian Chung, Cheuk Wing Fung, Cyril Mignot, Adina Ilea, Boris Keren, Anne-Isabelle Vermersch, Suzanne Davis, Thorsten Stanley, Mahendranath Moharir, Peter Kannu, Zhuo Shao, Natascia Malerba, Giuseppe Merla Show all
Epilepsia | WILEY | Published : 2019
DOI: 10.1111/epi.16372
Abstract
Pathogenic variants in GNB5 cause an autosomal recessive neurodevelopmental disorder with neonatal sinus bradycardia. Seizures or epilepsy occurred in 10 of 22 previously reported cases, including 6 children from one family. We delineate the epileptology of GNB5 encephalopathy. Our nine patients, including five new patients, were from seven families. Epileptic spasms were the most frequent seizure type, occurring in eight of nine patients, and began at a median age of 3 months (2 months to 3 years). Focal seizures preceded spasms in three children, with onset at 7 days, 11 days, and 4 months. One child presented with convulsive status epilepticus at 6 months. Three children had burst suppres..
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Awarded by NIH Clinical Center
Funding Acknowledgements
Health Research Council of New Zealand; Italian Ministry of Health; Cure Kids New Zealand; Fidapa Apricena; Daunia Plast, Scaringj and Stuppiello's Families; NIH Clinical Center, Grant/Award Number: NS069605; National Health and Medical Research Council; Circolo Unione Apricena