Developmental and Epileptic Encephalopathy 106 (DEE106)

Developmental and Epileptic Encephalopathy 106 (DEE106)

OMIM number: 620028

Comments closing date: 18/09/2024

Developmental and epileptic encephalopathy-106
(DEE106) is one of a group of severe epilepsies
and is characterized by the onset of various types
of frequent seizures (caused by surges of
electricity in the brain) within the first year of life.
The seizures occur many times each day and are
often refractory and not controllable with
medication. Affected individuals demonstrate
profound global developmental delay
(encephalopathy) with limited ability to sit or walk
and severely impaired intellectual development,
absent speech and have a poor prognosis.
DEE106 is caused by a mutation in the UFSP2
gene on chromosome 4 and the genetic condition
cannot be treated.

Share information with the HFEA