Genetic and neuroradiological heterogeneity of double cortex syndrome

Annals of Neurology

Volumn 47, Issue 2, 2000, Pages 265-269

  Gleeson, Joseph G ^a,c,k   Luo, Robert F ^a   Grant, P Ellen ^c   Guerrini, Renzo ^d   Huttenlocher, Peter R ^g   Berg, Michel J ^h   Ricci, Stefano ^e   Cusmai, Raffaella ^f   Wheless, James W ⁱ   Berkovic, Samuel ^j   Scheffer, Ingrid ^j   Dobyns, William B ^g   Walsh, Christopher A ^a,b  

^a BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^b HARVARD INSTITUTES OF MEDICINE   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY OF CHICAGO   (United States)

^h UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

ⁱ UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRAIN; CLINICAL ARTICLE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROTOPIA; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BRAIN; CEREBRAL CORTEX; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROTUBULE-ASSOCIATED PROTEINS; MUTATION; NEUROPEPTIDES;

EID: 0033967577     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200002)47:2<265::AID-ANA22>3.0.CO;2-N     Document Type: Article

References (9)

1. Harding B. Gray matter heterotopia. In: Guerrini R, Andermann F, Canapicchi R, et al, eds. Dysplasias of cerebral cortex and epilepsy. Philadelphia: Lippincott-Raven, 1996:81-88
2. Palmini A, Andermann F, de Grissac H, et al. Stages and patterns of centrifugal arrest of diffuse neuronal migration disorders. Dev Med Child Neurol 1993;35:331-339
3. Dobyns WB, Andermann E, Andermann F, et al. X-linked malformations of neuronal migration. Neurology 1996;47:331-339
4. Gleeson JG, Allen KM, Fox JW, et al. doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63-72
5. des Portes V, Pinard JM, Billuart P, et al. A novel CNS gene required for neuronal-migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998;92:51-61
6. Gleeson JG, Minnerath SR, Fox JW, et al. Characterizations of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 1999;45:146-153
7. des Portes V, Francis F, Pinard JM, et al. doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH). Hum Mol Genet 1998;7:1063-1070
8. American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 4th ed. Washington, DC: American Psychiatric Association, 1994:40
9. Pilz DT, Matsumoto N, Minnerath S, et al. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998;7:2029-2037