Prepair 1000+

Gene: NHLRC1

Green List (high evidence)

The Lafora type of progressive myoclonic epilepsy is characterized by insidious onset of progressive neurodegeneration between 8 and 18 years of age. Initial features can include headache, difficulties in school work, myoclonic jerks, generalized seizures, and often visual hallucination. The myoclonus, seizures, and hallucinations gradually worsen and become intractable. This is accompanied by progressive cognitive decline, resulting in dementia. About 10 years after onset, affected individuals are in near-continuous myoclonus with absence seizures, frequent generalized seizures, and profound dementia.

HGNC approved symbol/name: NHLRC1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

Created: 6 Feb 2025, 6:09 a.m. | Last Modified: 6 Feb 2025, 6:09 a.m.

Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myoclonic epilepsy of Lafora 2, MIM# 620681

Publications

• 21505799
• 12958597
• 18256682