FLNA

Species Homo sapiens
Alternate Name(s) FLN, FMD, MNS, ABPX, FLN1, NHBP, OPD1, OPD2, ABP-280
Epilepsy-Associated Disorder(s) X-linked periventricular nodular heterotopia
Description filamin A, alpha (actin binding protein 280)
Chromosome X
Locus Xq28
Fly Homolog jbug
Protein Alignment Homo sapiens:

Drosophila melanogaster:
Reference(s) Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec;21(6):1315-25.

Gomez-Garre P, Seijo M, Gutierrez-Delicado E, Castro Del Rio M, de la Torre C, Gomez-Abad C, Morales-Corraliza J, Puig M, Serratosa JM. Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. J Med Genet. 2005 Jul 1; [Epub ahead of print].

Guerrini R, Carrozzo R. Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7.

Moro F, Carrozzo R, Veggiotti P, Tortorella G, Toniolo D, Volzone A, Guerrini R. Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. Neurology. 2002 Mar 26;58(6):916-21.

Parrini E, Mei D, Wright M, Dorn T, Guerrini R. Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia. Neurogenetics. 2004 Jul 28 [Epub ahead of print].

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