developmental and epileptic encephalopathy 103

info · Genetic

A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21.

Signs and symptoms

Poor head control
Delayed CNS myelination
Severe intellectual disability
Intellectual disability
Opisthotonus
Spastic tetraplegia
Trismus
Absent speech
Eyelid myoclonus
Feeding difficulties

Also known as: DEE103; early infantile epileptic encephalopathy 103