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References OMIM Gene GeneReviews HGMD HGNC
last update : 19/07/2006
Symbol BPNH
Location Xq28
Name bilateral periventricular nodular heterotopia in females
Corresponding gene FLNA
Other symbol(s) NHBP, PVNH
Main clinical features
  • X-linked dominant . epilepsy ductus arteriosus and coagulopathy, also associated with cerebellar hypoplasia, mental retardation, lethal in boys
  • Genetic determination sex linked
    Related entries including cerebro-fronto-facial syndrome (OMIM608578)
    Function/system disorder congenital malformation
    mental retardation
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    Genotype/Phenotype correlations
  • periventricular nodular heterotopia caused by FLNA mutations in men has a wide clinical spectrum and is caused by different genetic mechanisms, including somatic mosaicism (from mild phenotypes, including unilateral PNH, to early deaths) . relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism, without a discernible skeletal phenotype(cerebro-fronto-facial syndrome), associated with a splice site mutation 1923C>T, resulting in the generation of both normal and aberrant mRNA