Objective: To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative. Methods: Screening of 35 patients from 33 pedigrees on an Affymetrix 6.0 microarray led to the identification of one individual bearing a CNV that disrupted FLNA. FLNA-disrupting CNVs were also isolated in 2 other individuals by multiplex ligation probe amplification. These 3 cases were further characterized by high-resolution oligo array comparative genomic hybridization (CGH), and the precise junctional breakpoints of the rearrangements were identified by PCR amplification and sequencing. Results: We report 3 cases of PNH caused by nonrecurrent genomic rearrangements that disrupt one copy o...
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associ...
International audienceAbstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular...
International audienceBACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous...
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ec...
We describe the clinical and molecular evaluation of two patients, mother and daughter (proband), wi...
We describe the clinical and molecular evaluation of two patients, mother and daughter (proband), wi...
BACKGROUND: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most f...
BackgroundPeriventricular nodular heterotopia (PNH) is a cell migration disorder associated with mut...
Understanding the genetic and molecular components involved in cortical development will enhance the...
Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belongi...
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...
Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neu...
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associ...
International audienceAbstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular...
International audienceBACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous...
Periventricular nodular heterotopia (PNH) is a brain malformation in which nodules of neurons are ec...
We describe the clinical and molecular evaluation of two patients, mother and daughter (proband), wi...
We describe the clinical and molecular evaluation of two patients, mother and daughter (proband), wi...
BACKGROUND: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most f...
BackgroundPeriventricular nodular heterotopia (PNH) is a cell migration disorder associated with mut...
Understanding the genetic and molecular components involved in cortical development will enhance the...
Two disorders, periventricular nodular heterotopia (PVNH) and a group of skeletal dysplasias belongi...
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles...
Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neu...
Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associ...
International audienceAbstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular...
International audienceBACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous...