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Paper Details

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Am J Hum Genet
35
2019
CACNA1B, CACNA1B variants, Ca2+, Cav2, Dyskinesia, Progressive Epilepsy-, SNARE, abnormal motor control, calcium, children, developmental epileptic encephalopathies, epilepsy, epileptic encephalopathy, human, hyperkinetic movement disorder, hypotonia, neurodevelopmental delay, neurological syndrome, non-epileptic hyperkinetic movements, postnatal microcephaly, pre, pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, respiratory complications, seizures
Author NameAffiliation
Kathleen M GormanUCL Great Ormond Street Institute of Child Health, Great Ormond Street Hospital
Detelina GrozevaCambridge Institute for Medical Research, University of Cambridge, UK Division of Psychological Medicine and Clinical Neuroscience, Cardiff University
Michael A SimpsonKing's College
Ingrid E SchefferEpilepsy Research Centre, University of Melbourne, Australia Florey Institute and Murdoch Institute of Neuroscience and Mental Health, Royal Children's Hospital
John J MillichapDivision of Psychological Medicine and Clinical Neuroscience, Cardiff University, Northwestern University Feinberg School of Medicine
Jill Clayton-SmithSt Mary's Hospital, Manchester University Hospitals, NHS Foundation Trust, University of Manchester
Frances Lucy RaymondCambridge Institute for Medical Research, University of Cambridge, UK NIHR BioResource, Cambridge University Hospitals
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Release 1.2