infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Findings
No curated finding names infantile-onset mesial temporal lobe epilepsy with severe cognitive regression yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018314), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TNK2HGNC:19297
- Supportive · Orphanet · Autosomal recessive · 2021