Focal epilepsy with speech disorder and with or without mental retardation

Mutations in the NPRL3 gene have been associated with a rare genetic disorder called “focal epilepsy with speech disorder and with or without mental retardation” (FESD). This condition is characterized by seizures that typically begin in childhood and are accompanied by difficulties with speech and language development. Some people with FESD also experience intellectual disability or learning difficulties.

There is ongoing research into the specific mechanisms by which NPRL3 gene mutations lead to FESD and other related disorders, as well as potential treatments for these conditions.

A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation ¹⁾