Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: Case reports and review of the literature

Journal of Child Neurology

Volumn 20, Issue 3, 2005, Pages 230-234

  Riel Romero, Rosario Maria S ^a   Smith, Charles D ^b   Pettigrew, Anjana L ^b  

^a Louisiana State University School of Medicine Shreveport   (United States)

^b UNIVERSITY OF KENTUCKY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ANTICONVULSIVE AGENT; ARGININE; GUANINE; HISTONE; RNA; VALPROIC ACID;

ADOLESCENT; ALEXANDER DISEASE; ARTICLE; BRAIN CYST; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; EXON; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HOSPITALIZATION; HUMAN; MACROCEPHALY; MALE; MUSCLE HYPERTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RIGHT HANDEDNESS; RNA SPLICING; SCHOOL CHILD; SIBLING; SPASTICITY; TONIC CLONIC SEIZURE;

EID: 17644397860     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307380502000301     Document Type: Article

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