A second patient with a De Novo GABRB1 mutation and epileptic encephalopathy.
Department of Pediatrics, St Olavs Hospital, Trondheim.
Espen
E
Lien
Section for Children and Youth, Department of Refractory Epilepsy, Division of Clinical Neuroscience, Oslo University Hospital, Oslo.
Anne Karine
AK
Våtevik
Section for Medical Genetics, Department of Pathology, St Olavs Hospital, Trondheim.
Rune
R
Østern
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Bjørn Ivar
BI
Haukanes
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
Gunnar
G
Houge
D004827:Epilepsy; D006801:Humans; D009154:Mutation; D011963:Receptors, GABA-A / Q000235:genetics; D013036:Spasms, Infantile
C546264:GABRB1 protein, human; D011963:Receptors, GABA-A