Movement Disorders Clinical Practice · 2016 · 21 citations · 7 references
Life SciencesNeurologyNeuroscienceEpilepsyMedical GeneticsNeurogeneticsEpilepsy GeneticsGenetic DisordersGenetic EpilepsiesNeurodevelopmental DisordersNeurogenetic DisordersSeizure DisordersAtaxia SyndromesGaitHereditary AtaxiasMyoclonic SeizuresProgressive Myoclonic EpilepsyProgressive Myoclonus Epilepsy SyndromesSeizuresZona Incerta
Abstract 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.
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The Unified Myoclonus Rating Scale.
Steven J. Frucht, Sue E. Leurgans, Mark Hallett et al. · PubMed · 2002 · 160 citations
<i>De novo</i>point mutations in patients diagnosed with ataxic cerebral palsy
Ricardo Parolin Schnekenberg, Emma Perkins, Jack W. Miller et al. · Brain · 2015 · 150 citations · Full text