Periventricular nodular heterotopia

One of the surprises about implicating FLNA in the causation of the otopalatodigital syndrome spectrum disorders was the fact that 5 years previously this same gene had been implicated in an entirely different clinical condition – periventricular nodular heterotopia (PVNH). This condition is characterized by epilepsy and is caused by the failure of neurons to migrate correctly to take up their correct configuration within the brain during embryonic and fetal development. This condition has therefore become of interest to the Research Group and analysis of samples from patients with this condition is also conducted on a research basis by the lab team at the current time.