Clinical review of genetic epileptic encephalopathies

European Journal of Medical Genetics

Volumn 55, Issue 5, 2012, Pages 281-298

  Noh, Grace J ^a   Jane Tavyev Asher, Y ^a   Graham, John M ^a  

^a CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Dravet syndrome; Epilepsy; Infantile spasms; Ohtahara syndrome; Rett syndrome; West syndrome

Indexed keywords

ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ARISTALESS RELATED HOMEOBOX PROTEIN; BIOTIN; CDKL5 PROTEIN; CLOBAZAM; CLONAZEPAM; ETIRACETAM; FORKHEAD BOX G1 PROTEIN; GLUCOSE TRANSPORTER 1; METHYL CPG BINDING PROTEIN 2; PHENOBARBITAL; POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNQ3; PROTEIN; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; SCN1B PROTEIN; SERINE; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.2; STIRIPENTOL; SYNTAXIN BINDING PROTEIN 1; TOPIRAMATE; TRANSCRIPTION FACTOR 4; TSC1 PROTEIN; TUBERIN; UBIQUITIN PROTEIN LIGASE E3A; UNCLASSIFIED DRUG; UNINDEXED DRUG; VALPROIC ACID; ZINC FINGER E BOX BINDING HOMEOBOX 2;

1P36 DELETION SYNDROME; 3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; 4 AMINOBUTYRATE AMINOTRANSFERASE DEFICIENCY; ANTICONVULSANT THERAPY; ARTICLE; BENIGN FAMILIAL NEONATAL SEIZURE; BRAIN RADIOGRAPHY; CEREBRAL CREATINE DISORDER; CHANNELOPATHY; CHROMOSOME 17P; CHROMOSOME 1P; CHROMOSOME 4P; CONGENITAL DISORDER OF GLYCOSYLATION; CONGENITAL MAGNESIUM MALABSORPTION; DEXTRO 2 HYDROXYGLUTARIC ACIDURIA; DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; DOWN SYNDROME; ELECTROENCEPHALOGRAM; EPILEPSY; FOLINIC ACID RESPONSIVE SEIZURE; GENE MUTATION; GENETIC DISORDER; GENETIC EPILEPTIC ENCEPHALOPATHY; GLUT1 DEFICIENCY; GLYCINE ENCEPHALOPATHY; HAPPY PUPPET SYNDROME; HUMAN; INBORN ERROR OF METABOLISM; INV DUP 15 SYNDROME; KETOGENIC DIET; MEGALENCEPHALY CAPILLARY MALFORMATION SYNDROME; MENKES SYNDROME; MICROCEPHALY CAPILLARY MALFORMATION SYNDROME; MILLER DIEKER SYNDROME; MITOCHONDRIAL ENCEPHALOPATHY; MITOCHONDRIAL GLUTAMATE TRANSPORTER DEFECT; MOLYBDENUM COFACTOR DEFICIENCY; MOWAT WILSON SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; PATIENT COUNSELING; PEROXISOMAL BIOGENESIS DEFECT; PITT HOPKINS SYNDROME; POSITRON EMISSION TOMOGRAPHY; PRIMARY HYPERINSULINEMIC HYPOGLYCEMIA; PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY SYNDROME; PYRIDOXAL 5' PHOSPHATE DEPENDENT EPILEPSY; PYRIDOXINE DEPENDENT SEIZURE; PYRUVATE CARBOXYLASE DEFICIENCY; RETT SYNDROME; RING CHROMOSOME 14 SYNDROME; RING CHROMOSOME 20 SYNDROME; SEVERE MYOCLONIC EPILEPSY IN INFANCY; SULFITE OXIDASE DEFICIENCY; TUBEROUS SCLEROSIS COMPLEX; UNIPARENTAL DISOMY; WEST SYNDROME; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN; EPILEPSY; GENETIC DISEASES, INBORN; HUMANS; METABOLIC DISEASES; MUTATION; PHENOTYPE; SYNDROME;

EID: 84862235216     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.12.010     Document Type: Article

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