Filamin A, periventricular nodular heterotopia, and West syndrome [1]

Epilepsia

Volumn 47, Issue 6, 2006, Pages 1082-

  Robertson, Stephen P ^a  

^a School of Medicine   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN A;

AMINO ACID SUBSTITUTION; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DNA POLYMORPHISM; FLNA GENE; GENE; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROTOPIA; HUMAN; IKBKG GENE; LETTER; MISSENSE MUTATION; PERIVENTRICULAR NODULAR HETEROTOPIA; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WEST SYNDROME; X CHROMOSOME LINKAGE;

BRAIN DISEASES; CEREBRAL VENTRICLES; CHORISTOMA; CONTRACTILE PROTEINS; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; EXONS; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; MALE; METHIONINE; MICROFILAMENT PROTEINS; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, PROTEIN; SPASMS, INFANTILE; THREONINE;

EID: 33744481542     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2006.00579_1.x     Document Type: Letter

References (4)

1. Masruha MR Caboclo LO Carrete H Jr., et al. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. Epilepsia 2006 47 : 211 4.
2. Robertson SP Twigg SR Sutherland-Smith AJ, et al.. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 2003 33 : 487 91.
3. Aradhya S Ahobila P Lewis RA, et al.. Filamin (FLN1), plexin (SEX), major palmitoylated protein p55 (MPP1), and von Hippel-Lindau binding protein (VBP1) are not involved in incontinentia pigmenti type 2. Am J Med Genet 2000 94 : 79 84.
4. Aradhya S Woffendin H Jakins T, et al.. A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 2001 10 : 2171 9.