A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism

Journal of Child Neurology

Volumn 25, Issue 6, 2010, Pages 738-741

  Mineyko, Aleksandra ^a   Doja, Asif ^a   Hurteau, Julie ^a   Dobyns, William B ^b   Das, Soma ^b   Boycott, Kym M ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

Lissencephaly; Somatic mosaicism; Subcortical band heterotopia

Indexed keywords

LAMOTRIGINE;

ARTICLE; BEERY TEST OF VISUAL MOTOR INTEGRATION; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CHILD; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DEVELOPMENTAL SCREENING; ELECTROCORTICOGRAPHY; EYE HAND COORDINATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE IDENTIFICATION; GENETIC PREDISPOSITION; HEAD CIRCUMFERENCE; HUMAN; LANGUAGE DEVELOPMENT; MALE; MILLER ASSESSMENT FOR PRESCHOOLERS; MISSENSE MUTATION; MOSAICISM; MOTOR PERFORMANCE; MOVEMENT ASSESSMENT BATTERY FOR CHILDREN; NUCLEAR MAGNETIC RESONANCE IMAGING; PACHYGYRIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SUBCORTICAL HETEROTOPIA; TONIC CLONIC SEIZURE; VISUAL SYSTEM FUNCTION;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; CHILD, PRESCHOOL; CLASSICAL LISSENCEPHALIES AND SUBCORTICAL BAND HETEROTOPIAS; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; HUMANS; LISSENCEPHALY; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MOSAICISM; MUTATION, MISSENSE; SEIZURES;

EID: 77952897230     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809343312     Document Type: Article

References (12)

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