progressive myoclonus epilepsy 3

info · Genetic

A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21.

Signs and symptoms

Microcephaly
Cerebral atrophy
Truncal ataxia
Absent speech
Developmental regression
Cerebellar atrophy
Dysarthria
Intellectual disability
Bilateral tonic-clonic seizure with focal onset
Generalized myoclonic seizure

Also known as: CLN14 disease; EPM3; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3