Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Orpha code: 391316OMIM code:

Definition

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression is a rare monogenic disease with infantile-onset pharmacoresistant focal seizures of mesial temporal lobe onset manifesting with unresponsiveness, hypertonia and automatisms and cognitive regression soon after seizure onset leading to severe intellectual disability with behavioral abnormalities.

Disease data
Classification

Disease

ORPHA code
391316
OMIM code
-
ICD10 code
G40.2
ICD11 code
-

No additional description.

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