A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy

Ann Neurol. 2016 Aug;80(2):311-2. doi: 10.1002/ana.24699. Epub 2016 Jun 28.

Authors

Espen Lien¹, Anne Karine Våtevik², Rune Østern³, Bjørn Ivar Haukanes⁴, Gunnar Houge⁴

Affiliations

¹ Department of Pediatrics, St Olavs Hospital, Trondheim.
² Section for Children and Youth, Department of Refractory Epilepsy, Division of Clinical Neuroscience, Oslo University Hospital, Oslo.
³ Section for Medical Genetics, Department of Pathology, St Olavs Hospital, Trondheim.
⁴ Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

PMID: 27273810
DOI: 10.1002/ana.24699

No abstract available

Publication types

Letter
Comment

MeSH terms

Epilepsy*
Humans
Mutation
Receptors, GABA-A / genetics
Spasms, Infantile*

Substances

GABRB1 protein, human
Receptors, GABA-A