Genetic Epilepsy

Gene: ASAH1

Biallelic variants in the ASAH1 gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA‐PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA‐PME is characterized by childhood onset progressive weakness due to motor neuron disease followed by progressive epilepsy, tremor, and sensorineural hearing loss.

Created: 2 Nov 2020, 5:13 a.m. | Last Modified: 2 Nov 2020, 5:13 a.m.

Panel Version: 0.5257

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 32875576
• 32449975

Green List (high evidence)

AR SMA with progressive myoclonic epilepsy. Zhou et al, 2012 - 6 patients from 3 unrelated families. Family 1 - 3 aff sibs of consang turkish parents - progressive myoclonic epilepsy developed around 7 years of age. Family 2 - 2 Italian sisters - unrelated parents both had geralised epileptic seizures and myoclonic jerks from around 12 years of age. Family 3 - 1 aff girl - myoclonic seizures at age 11. First two families - hom missense variant T42M and family 3, compound het for T42M and a gene deletion, expression studies done. Dyment et al, 2014 - girl born of N.European descent - at 10 years, absence and atonic seizures and myoclonic jerks - compound het (missense and a nonsense) and segregated with disease.
Sources: Expert list

Created: 7 Jan 2020, 7:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950

Publications

• 8955159
• 22703880
• 27026573