Conditions / Genetic
developmental and epileptic encephalopathy 113
info · Genetic
A developmental and epileptic encephalopathy that is characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam and that has_material_basis_in homozygous mutation in the SV2A gene on chromosome 1q21.
Signs and symptoms
- Hypotonia
- Elevated brain lactate level by MRS
- Reduced brain N-acetyl aspartate level by MRS
- Thin corpus callosum
- Failure to thrive
- Ventriculomegaly
- Postnatal growth retardation
- Microcephaly
- Interictal EEG abnormality
- Developmental regression