SCN2A encephalopathy

Neurology

Volumn 85, Issue 11, 2015, Pages 958-966

  Howell, Katherine B ^a,b,c   McMahon, Jacinta M ^b   Carvill, Gemma L ^d   Tambunan, Dimira ^e   Mackay, Mark T ^a,b,c   Rodriguez Casero, Victoria ^a   Webster, Richard ^f   Clark, Damian ^g   Freeman, Jeremy L ^a,c   Calvert, Sophie ^h   Olson, Heather E ^e   Mandelstam, Simone ^a,b,i   Poduri, Annapurna ^e   Mefford, Heather C ^d   Harvey, A Simon ^a,b,c,i   Scheffer, Ingrid E ^a,b,i  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d UNIVERSITY OF WASHINGTON   (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^g WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^h LADY CILENTO CHILDREN S HOSPITAL   (Australia)

ⁱ FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; CARBAMAZEPINE; CLONAZEPAM; ETIRACETAM; LAMOTRIGINE; OXCARBAZEPINE; PHENYTOIN; PREDNISOLONE; SODIUM CHANNEL NAV1.2; TOPIRAMATE; VIGABATRIN; SCN2A PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; ASTROCYTOSIS; ATAXIA; ATONIC SEIZURE; AUDITORY STARTLE; AUTONOMIC DYSFUNCTION; AXIAL HYPOTONIA; BASAL GANGLION; BRAIN ATROPHY; BRAIN DISEASE; BRAIN STEM; CAUSE OF DEATH; CEREBELLUM ATROPHY; CHILD; CHOREA; CHRONIC DIARRHEA; CLINICAL ARTICLE; CLINICAL FEATURE; CONSTIPATION; CONTROLLED STUDY; DISEASE SEVERITY; DRUG DOSE REDUCTION; DRUG MEGADOSE; DYSKINESIA; DYSTONIA; EARLY HANDEDNESS; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; EPISODIC HYPERVENTILATION; FEMALE; FOCAL EPILEPSY; FOLLOW UP; FRAMESHIFT MUTATION; FRONTAL LOBE; GASTROESOPHAGEAL REFLUX; GINGIVA HYPERTROPHY; GLIOSIS; HEARING IMPAIRMENT; HICCUP; HUMAN; HYPERVENTILATION; INFANT; INFANT DISEASE; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; IRRITABILITY; LANGUAGE DELAY; MALE; MICROCEPHALY; MISSENSE MUTATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MYOCLONUS; NASOGASTRIC TUBE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; OPTIC NERVE ATROPHY; PERSISTENT APPENDICULAR SPASTICITY; PHENOTYPE; PNEUMONIA; PRIORITY JOURNAL; RECORDING; SCN2A ENCEPHALOPATHY; SEIZURE; SPASTICITY; STEREOTYPY; STOMACH TUBE; STRABISMUS; SUDDEN DEATH; SYLVIAN FISSURE; TACHYCARDIA; TEMPORAL LOBE; THALAMUS; TONIC SEIZURE; WHITE MATTER; COMPLICATION; ELECTROENCEPHALOGRAPHY; GENETIC PREDISPOSITION; GENETICS; MUTATION; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; ELECTROENCEPHALOGRAPHY; EPILEPSIES, PARTIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MUTATION; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; PHENOTYPE; SEIZURES; SPASMS, INFANTILE; YOUNG ADULT;

EID: 84947230795     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000001926     Document Type: Article

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