Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia

Neurology

Volumn 62, Issue 5, 2004, Pages 799-802

  Torres, F R ^a   Montenegro, M A ^a   Marques De Faria, A P ^a   Guerreiro, M M ^a   Cendes, F ^a   Lopes Cendes, Iscia ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGYRIA; ARTICLE; BRAIN MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYTOMEGALOVIRUS INFECTION; DEVELOPMENTAL DISORDER; ELECTROPHORESIS; EPILEPSY; FAMILY HISTORY; FEMALE; GENE; HETEROTOPIA; HUMAN; LIS1 GENE; MALE; MEASLES; MISSENSE MUTATION; MUSCLE HYPOTONIA; MUTATION; NEWBORN DEATH; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PACHYGYRIA; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SPONTANEOUS ABORTION; SUBCORTICAL BAND HETEROTOPIA;

EID: 1542346250     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000113725.46254.FD     Document Type: Article

References (10)

1. Crome L. Pachygyria. J Pathol Bacteriol 1956;71:335-352.
2. Barkovich AJ, Guerrini R, Battaglia G, et al. Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 1994;36:609-617.
3. Cardoso C, Leventer RJ, Dowling JJ, et al. Clinical and molecular basis of classical lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum Mutat 2002;19:4-15.
4. Matsumoto N, Leventer RJ, Kuc JA. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. Eur J Hum Genet 2001;9:5-12.
5. Dobyns WB, Truwit CL, Ross ME, et al. Differences in the gyral patterndistinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53:270-277.
6. Montenegro MA, Guerreiro MM, Lopes-Cendes I, Guerreiro CAM, Cendes F. Interrelationship of genetics and prenatal injury in the genesis of malformations of cortical development. Arch Neurol 2002;59:1147-1153.
7. 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.
8. Leventer RJ, Cardoso C, Ledbetter DH, Dobyns WB. LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ. Neurology 2001;57:416-422.
9. Gaitatzes C. The WD repeat family of proteins (online). Available at http://BMERC-www.bu.edu/wdrepeat. Accessed June 17, 2003.
10. Des Portes V, Francis F, Pinard JM, et al. Doublecortin is the major gene causing X-linked subcortical laminar heterotopia. Hum Mol Genet 1998;7:1063-1070.