Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

Human Molecular Genetics

Volumn 10, Issue 17, 2001, Pages 1775-1783

  Sheen, Volney L ^a,l   Dixon, Peter H ^b   Fox, Jeremy W ^a   Hong, Susan E ^a   Kinton, Lucy ^b   Sisodiya, Sanjay M ^b   Duncan, John S ^b   Dubeau, Francois ^c   Scheffer, Ingrid E ^d   Schachter, Steven C ^a   Wilner, Andrew ^e   Henchy, Ruth ^f   Crino, Peter ^g   Kamuro, Kazuhiro ^h   DiMario, Frances ⁱ   Berg, Michel ^j   Kuzniecky, Ruben ^k   Cole, Andrew J ^l   Bromfield, Edward ^m   Biber, Michael ^a   Schomer, Donald ^a   Wheless, James ⁿ   Silver, Kenneth ^o   Mochida, Ganeshwaran H ^a,l   Berkovic, Samuel F ^d   Andermann, Fred ^c   Andermann, Eva ^c   Dobyns, William B ^p   Wood, Nicholas W ^b   Walsh, Christopher A ^a,q   more..

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Americas Building   (United States)

^f Medical Clinic   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h Kokubu Seikyo Hospital   (Japan)

ⁱ UNIVERSITY OF CONNECTICUT   (United States)

^j UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

^k UAB Department of Neurology   (United States)

^l MASSACHUSETTS GENERAL HOSPITAL   (United States)

^m BRIGHAM AND WOMEN S HOSPITAL   (United States)

ⁿ UNIVERSITY OF TEXAS   (United States)

^o LOYOLA UNIVERSITY MEDICAL CENTER   (United States)

^p UNIVERSITY OF CHICAGO   (United States)

^q HARVARD INSTITUTES OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN; FILAMIN A; UNCLASSIFIED DRUG;

ARTICLE; BRAIN CORTEX; BRAIN DEVELOPMENT; BRAIN DISEASE; BRAIN NERVE CELL; BRAIN VENTRICLE; CELL DIFFERENTIATION; CELL MIGRATION; CHROMOSOME MOSAICISM; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; EXON; FEMALE; GENE MUTATION; GENETIC CODE; HETEROTOPIA; HETEROZYGOTE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PERIPHERAL LYMPHOCYTE; PREDICTION; PRIORITY JOURNAL; RADIODIAGNOSIS; SENSITIVITY AND SPECIFICITY; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME;

EID: 0035880455     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.17.1775     Document Type: Article

References (31)

1. Embryonic vertebrate central nervous system: Revised terminology
2. Familial band heterotopias simulating tuberous sclerosis
3. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia
4. Periventricular heterotopia and epilepsy
5. Periventricular heterotopia: An X-linked dominant epilepsy locus causing aberrant cerebral cortical development
6. Gray matter heterotopias: MR characteristics and correlation with developmental and neurological manifestations
7. Hereditary nodular heterotopia accompanied by mega cisterna magna
8. Familial periventricular nodular heterotopia
9. Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex
10. Human endothelial actin-binding protein (ABP-280, non-muscle filamin): A molecular leaf spring
11. Isolation and properties of actin, myosin, and a new actin-binding protein in rabbit alveolar macrophages
12. Actin-binding protein-280 binds the stress-activated protein kinase (SAPK) activator SEK-1 and is required for tumor necrosis factor-α activation of SAPK in melanoma cells
13. The small GTPase Ra1A targets filamin to induce filopodia
14. Identification of the region in actin-binding protein that binds to the cytoplasmic domain of glycoprotein IBα
15. The Rac1- and RhoG-specific GEF domain of trio targets filamin to remodel cytoskeletal actin
16. A role for tissue factor in cell adhesion and migration mediated by interaction with actin-binding protein 280
17. Distribution of actin-binding protein and myosin in macrophages during spreading and phagocytosis
18. Actin-binding protein requirement for cortical stability and efficient locomotion
19. The role of actin-binding protein 280 in integrin-dependent mechanoprotection
20. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: Neuroimaging findings
21. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
22. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome
23. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes
24. Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
25. High rate of mosaicism in tuberous sclerosis complex
26. Germ-line mosaicism in tuberous sclerosis: How common?
27. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
28. Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
29. Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection
30. Female-to-male transmission of isolated periventricular heterotopia, cosegregating with the Xq28 region
31. Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia