Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
Sheen, V L
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. [electronic resource] - Neurology Jan 2005 - 254-62 p. digital
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.
1526-632X
10.1212/01.WNL.0000149512.79621.DF doi
Adolescent
Adult
Amino Acid Substitution
Brain--abnormalities
Child
Chromosomes, Human, X--genetics
Contractile Proteins--deficiency
DNA Mutational Analysis
Ehlers-Danlos Syndrome--genetics
Epilepsy--etiology
Exons--genetics
Female
Filamins
Humans
Infant
Magnetic Resonance Imaging
Male
Microfilament Proteins--deficiency
Microsatellite Repeats
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Point Mutation
Polymorphism, Single-Stranded Conformational
Sequence Deletion
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. [electronic resource] - Neurology Jan 2005 - 254-62 p. digital
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.
1526-632X
10.1212/01.WNL.0000149512.79621.DF doi
Adolescent
Adult
Amino Acid Substitution
Brain--abnormalities
Child
Chromosomes, Human, X--genetics
Contractile Proteins--deficiency
DNA Mutational Analysis
Ehlers-Danlos Syndrome--genetics
Epilepsy--etiology
Exons--genetics
Female
Filamins
Humans
Infant
Magnetic Resonance Imaging
Male
Microfilament Proteins--deficiency
Microsatellite Repeats
Middle Aged
Mutation, Missense
Pedigree
Phenotype
Point Mutation
Polymorphism, Single-Stranded Conformational
Sequence Deletion