epilepsy
Missense mutations and distal truncations consistent with partial loss of FLN1 function cause familial BPNH with the classical clinical phenotype including epilepsy and mild mental retardation, if any.
Missense mutations and distal truncations consistent with partial loss of <span class="gene" id="11914408-9-74-78">FLN1</span> function cause familial BPNH with the classical clinical phenotype including <span class="disease" id="11914408-9-156-164">epilepsy</span> and mild mental retardation, if any.