MED23-associated refractory epilepsy successfully treated with the ketogenic diet

American Journal of Medical Genetics, Part A

Volumn 170, Issue 9, 2016, Pages 2421-2425

  Lionel, Anath C ^a   Monfared, Nasim ^b   Scherer, Stephen W ^c,d   Marshall, Christian R ^a   Mercimek Mahmutoglu, Saadet ^b,d  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

intellectual disability; ketogenic diet; MED23; refractory epilepsy

Indexed keywords

CLOBAZAM; GLUCOSE TRANSPORTER 1; METHYL CPG BINDING PROTEIN 2; TOPIRAMATE; VALPROIC ACID; MED23 PROTEIN, HUMAN; MEDIATOR COMPLEX;

ARTICLE; CASE REPORT; CHILD; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; DRUG RESISTANT EPILEPSY; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; GJC2 GENE; HUMAN; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; KETONURIA; MALE; MECP2 GENE; MED23 GENE; MICROCEPHALY; MUSCLE HYPOTONIA; MYELINATION; NEUROIMAGING; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PLP1 GENE; POLG GENE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SPTAN1 GENE; WHOLE EXOME SEQUENCING; ALLELE; BRAIN; DIET THERAPY; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; PHENOTYPE; TREATMENT OUTCOME;

ALLELES; BRAIN; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; KETOGENIC DIET; MAGNETIC RESONANCE IMAGING; MALE; MEDIATOR COMPLEX; MUTATION; PHENOTYPE; TREATMENT OUTCOME;

EID: 84978663436     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37802     Document Type: Article

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