title: Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.
authors: Department of Paediatric Neurology, Evelina Children's Hospital, Guys and St Thomas' NHS Foundation Trust, United Kingdom.
authors: R
authors: R
authors: Singh
authors: Department of Paediatric Neurology, Evelina Children's Hospital, Guys and St Thomas' NHS Foundation Trust, United Kingdom.
authors: S
authors: S
authors: Jayapal
authors: Neurophysiology Department, Evelina Children's Hospital, Guys and St Thomas' NHS Foundation Trust, United Kingdom.
authors: S
authors: S
authors: Goyal
authors: Department of Paediatric Neurology, Evelina Children's Hospital, Guys and St Thomas' NHS Foundation Trust, United Kingdom; Randall Division of Cell and Molecular Biophysics, King's College London, United Kingdom; Department of Basic and Clinical Neuroscience, IoPPN, King's College London, United Kingdom.
authors: H
authors: H
authors: Jungbluth
authors: Department of Paediatric Neurology, Evelina Children's Hospital, Guys and St Thomas' NHS Foundation Trust, United Kingdom. Electronic address: karine.lascelles@gstt.nhs.uk.
authors: K
authors: K
authors: Lascelles
mesh_terms: D004569:Electroencephalography; D004576:Electromyography; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis / Q000235:genetics*; D062557:NAV1.6 Voltage-Gated Sodium Channel / Q000235:genetics*; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics*
chemical_list: D062557:NAV1.6 Voltage-Gated Sodium Channel; C100681:SCN8A protein, human