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Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa
Author(s) -
Anderson David G.,
Németh Andrea H.,
Fawcett Katherine A.,
Sims David,
Miller Jack,
Krause Amanda
Publication year - 2016
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12372
Subject(s) - deep brain stimulation , epilepsy , myoclonus , ataxia , generalized epilepsy , medicine , psychology , stimulation , pediatrics , physical medicine and rehabilitation , neuroscience , parkinson's disease , disease
View Supplementary Video 1 View Supplementary Video 2 We report on a white Afrikaans family from eastern South Africa with three members affected with North Sea progressive myoclonus epilepsy, resulting from a homozygous founder GOSR 2 mutation (c.430G>T, p.Gly144Trp). The mutation was identified by exomic sequencing in a research study investigating childhood onset ataxias. All three subjects presented with ataxia, tremor, early gait difficulties, and myoclonic and generalized tonic clonic ( GTC ) epilepsy. Each patient underwent deep brain stimulation of the caudal Zona Incerta before coming to the attention of the authors. In each case there was a reduction in GTC seizures, and two patients exhibited a reduction in involuntary movements, as evaluated during long‐term follow‐up. In one case there was an improvement in gait and stance when assessed while the stimulation was on.