Caused by changes that disrupt how nerve cells start moving in the developing brain. FLNA, on the X chromosome, is the most common known cause and mainly affects females, as loss of FLNA is often not survivable in males. ARF1 and MAP1B cause dominant forms.
Příznaky a projevy
Seizures, often starting in the teenage years, are the most common feature; intelligence is often typical or mildly affected with FLNA. FLNA can also cause heart and blood vessel problems, such as a widened aorta and valve disease, and lung or joint problems. Other genes are more often associated with developmental delay and intellectual disability.
Co se diagnózou změní
Seizure treatment, with heart and aorta imaging for people with FLNA changes. Genetic counselling helps clarify inheritance: a woman with an FLNA change has a 50% chance of passing it to each child.
Zahrnuty jsou také specifické formy
Zahrnuje 8 příbuzných podtypů ↓Skrýt podtypy ↑
- chromosome 5Q14.3 deletion syndrome, distal
- heterotopia, periventricular, associated with chromosome 5P anomalies
- heterotopia, periventricular, X-linked dominant
- periventricular heterotopia with microcephaly, autosomal recessive
- periventricular nodular heterotopia 6
- periventricular nodular heterotopia 7
- periventricular nodular heterotopia 8
- periventricular nodular heterotopia 9
