Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 166, Issue 2, 2014, Pages 156-172

  Mirzaa, Ghayda M ^a   Poduri, Annapurna ^b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Hemimegalencephaly; Megalencephaly; Overgrowth; PI3K AKT mTOR pathway; Polymicrogyria; Ras MAPK pathway; Somatic mosaicism

Indexed keywords

PHOSPHATIDYLINOSITOL 3 KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; MTOR PROTEIN, HUMAN; TARGET OF RAPAMYCIN KINASE;

ALEXANDER DISEASE; ARTICLE; AUTISM; CHROMOSOME MOSAICISM; CLINICAL FEATURE; CORTICAL DYSPLASIA; EPILEPSY; GAIN OF FUNCTION MUTATION; HUMAN; HYDROCEPHALUS; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; METABOLIC DISORDER; MICROGYRIA; MOLECULAR PATHOLOGY; NEUROIMAGING; POLYDACTYLY; PRIORITY JOURNAL; SYNDROME; TREATMENT INDICATION; ANIMAL; GENETICS; HEMIMEGALENCEPHALY; MOLECULARLY TARGETED THERAPY; MUTATION; SIGNAL TRANSDUCTION;

ANIMALS; HEMIMEGALENCEPHALY; HUMANS; MOLECULAR TARGETED THERAPY; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES;

EID: 84902547567     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31401     Document Type: Article

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