Dravet syndrome: Patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects

Seizure

Volumn 21, Issue 1, 2012, Pages 17-20

  Craig, Alexa K ^a   De Menezes, Marcio Sotero ^b   Saneto, Russell P ^a  

^a SEATTLE CHILDREN S HOSPITAL   (United States)

^b SWEDISH MEDICAL CENTER   (United States)

Author keywords

Autism; Dravet syndrome; Electron transport chain; Mitochondrial disease; SCN1A

Indexed keywords

ADENINE; CARBAMAZEPINE; CLONAZEPAM; CYTOCHROME C OXIDASE; CYTOSINE; ETIRACETAM; GUANINE; LAMOTRIGINE; PHENOBARBITAL; SODIUM CHANNEL NAV1.1; THYMINE; TOPIRAMATE; UBIQUINOL CYTOCHROME C REDUCTASE; VALPROIC ACID; ZONISAMIDE;

ADOLESCENT; ARTICLE; ATAXIA; AUTISM; CASE REPORT; CHILD; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; CONTROLLED STUDY; DEATH; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSARTHRIA; ELECTROENCEPHALOGRAM; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; FEMALE; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; LIVER FAILURE; MALE; MEDICAL RECORD REVIEW; MISSENSE MUTATION; MITOCHONDRIAL ENERGY TRANSFER; MUSCLE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEIZURE; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SLOW BRAIN WAVE; TREMOR; VAGUS NERVE STIMULATION;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; EPILEPSY; HUMANS; INFANT; MALE; MITOCHONDRIAL DISEASES; MUTATION; NERVE TISSUE PROTEINS; RETROSPECTIVE STUDIES; SODIUM CHANNELS; SYNDROME;

EID: 84355163014     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2011.08.010     Document Type: Article

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