Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX

Neurology

Volumn 58, Issue 10, 2002, Pages 1559-1562

  Poolos, Nicholas P ^a   Das, S ^a   Clark, G D ^a   Lardizabal, D ^a   Noebels, J L ^a   Wyllie, E ^a   Dobyns, W B ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DOUBLECORTIN;

ADULT; ARTICLE; CASE REPORT; CONTROLLED STUDY; EPILEPSY; GENE MUTATION; HETEROTOPIA; HUMAN; IMAGE ANALYSIS; MALE; MOSAICISM; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0037188368     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.10.1559     Document Type: Article

References (10)

1. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
2. Band heterotopia or double cortex in a male: Bridging structures suggest abnormality of the radial glial guide system
3. Association of trisomy 9p and band heterotopia
4. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1
5. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
6. Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
7. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation
8. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome
9. Male monozygotic twins discordant for periventricular nodular heterotopia and epilepsy
10. A mild case of Friedreich ataxia: Lymphocyte and sural nerve analysis for GAA repeat length reveals somatic mosaicism