TY  - GEN
AU  - Guerrini,R
AU  - Mei,D
AU  - Sisodiya,S
AU  - Sicca,F
AU  - Harding,B
AU  - Takahashi,Y
AU  - Dorn,T
AU  - Yoshida,A
AU  - Campistol,J
AU  - Krämer,G
AU  - Moro,F
AU  - Dobyns,W B
AU  - Parrini,E
TI  - Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
SN  - 1526-632X
PY  - 2004///1221
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Brain Diseases
KW  - Cell Movement
KW  - Cerebral Ventricles
KW  - abnormalities
KW  - Child, Preschool
KW  - Choristoma
KW  - Chromosomes, Human, X
KW  - Cisterna Magna
KW  - Contractile Proteins
KW  - deficiency
KW  - DNA Mutational Analysis
KW  - Dosage Compensation, Genetic
KW  - Female
KW  - Filamins
KW  - Genes, Lethal
KW  - Genetic Diseases, X-Linked
KW  - diagnosis
KW  - Germ-Line Mutation
KW  - Hair Follicle
KW  - chemistry
KW  - Humans
KW  - Infant, Newborn
KW  - Introns
KW  - Male
KW  - Microfilament Proteins
KW  - Middle Aged
KW  - Mosaicism
KW  - Mutation, Missense
KW  - Neurons
KW  - pathology
KW  - Pedigree
KW  - Phenotype
KW  - Point Mutation
KW  - RNA Splice Sites
KW  - Sequence Deletion
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000132818.84827.4d
ER  -