BabyScreen+ newborn screening

Gene: NHLRC1

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780

Red List (low evidence)

Gene-disease association: strong but very rare. The Lafora type of progressive myoclonic epilepsy is an autosomal recessive disorder 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 or a vegetative state.

Severity: severe

Age of onset: 8-18y

Non-molecular confirmatory testing:

Treatment: symptomatic only therefore exclude

Created: 5 Oct 2022, 12:11 a.m. | Last Modified: 5 Oct 2022, 12:11 a.m.

Panel Version: 0.274

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2B (Lafora)