TY  - GEN
AU  - Sheen,V L
AU  - Jansen,A
AU  - Chen,M H
AU  - Parrini,E
AU  - Morgan,T
AU  - Ravenscroft,R
AU  - Ganesh,V
AU  - Underwood,T
AU  - Wiley,J
AU  - Leventer,R
AU  - Vaid,R R
AU  - Ruiz,D E
AU  - Hutchins,G M
AU  - Menasha,J
AU  - Willner,J
AU  - Geng,Y
AU  - Gripp,K W
AU  - Nicholson,L
AU  - Berry-Kravis,E
AU  - Bodell,A
AU  - Apse,K
AU  - Hill,R S
AU  - Dubeau,F
AU  - Andermann,F
AU  - Barkovich,J
AU  - Andermann,E
AU  - Shugart,Y Y
AU  - Thomas,P
AU  - Viri,M
AU  - Veggiotti,P
AU  - Robertson,S
AU  - Guerrini,R
AU  - Walsh,C A
TI  - Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome
SN  - 1526-632X
PY  - 2005///0920
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Substitution
KW  - Brain
KW  - abnormalities
KW  - Child
KW  - Chromosomes, Human, X
KW  - genetics
KW  - Contractile Proteins
KW  - deficiency
KW  - DNA Mutational Analysis
KW  - Ehlers-Danlos Syndrome
KW  - Epilepsy
KW  - etiology
KW  - Exons
KW  - Female
KW  - Filamins
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Microfilament Proteins
KW  - Microsatellite Repeats
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - Polymorphism, Single-Stranded Conformational
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1212/01.WNL.0000149512.79621.DF
ER  -