about
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.Sudden death in epilepsy: Insights from the last 25 years.A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease.The glycinergic system in human startle disease: a genetic screening approach.Epilepsy and deprivation, a data linkage study.The hidden genetics of epilepsy-a clinically important new paradigm.A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.Hyperconnectivity in juvenile myoclonic epilepsy: a network analysisGenome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle diseaseThe consequences of valproate exposure in utero.New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.Implications for families of advances in understanding the genetic basis of epilepsy.Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges.Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy.Impulsive and episodic disorders of aggressive behaviour following traumatic brain injury.Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy.Epilepsy and bipolar disorder.Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects.On the road again: assessing driving ability in patients with neurological conditions.Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.Epilepsy prevalence and socioeconomic deprivation in England.Cluster of atypical adult Guillain-Barré syndrome temporally associated with neurological illness due to EV-D68 in children, South Wales, United Kingdom, October 2015 to January 2016.A neurological presentation of intravascular B-cell lymphoma.What can rare variant genetics tell us about cognition and intellectual difficulties?Careers advice: paper is essential reading for the tall and beautiful.Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010.The importance of the experiences of initial diagnosis and treatment failure when switching antiepileptic drugs.Weight change associated with antiepileptic drugs.Encephalitis guidelines: a recipe for success?Dental injury during seizures associated with juvenile myoclonic epilepsy.Gamification of Medication Adherence in Epilepsy.Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.Ethnicity can predict GLRA1 genotypes in hyperekplexia.GLRB is the third major gene of effect in hyperekplexia.Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy.
P50
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P50
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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Rhys H Thomas
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2000-01-01T00:00:00Z