periventricular nodular heterotopia type-1

Pathology

• see periventricular nodular heterotopia

Genetics

• X-linked dominant
• associated with defects in FLNA

Clinical manifestations

• heterozygous females have normal intelligence but suffer from seizures & various manifestations outside the central nervous system, especially related to the vascular system
• hemizygous affected males die in the prenatal or perinatal period

More general terms

• periventricular nodular heterotopia (nodular brain heteropia)

Database

• OMIM: https://mirror.omim.org/entry/300049