Early onset or syndromic epilepsy

Gene: FIG4

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

I don't know

familial epilepsy with polymicrogyria reported as autsomal recessive, AR bilateral temporooccipital polymicrogyria (BTOP), AR CMT type 4J, AR Yunis Varon syndrome and AD ALS11. BTOP is the only one with an associated seizure disorder. Ouled Amar Ben Chiekh et al, 2009 & Baulac et al, 2014 - large consang Moroccan family - 6 individuals had a seizure disorder - all were a homogenous phentoype. Hom missense mutation identified - functional expression stidues indicate that the mutation caused a partial LOF.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis 11, 612577; Charcot-Marie-Tooth disease, type 4J, 611228; ?Polymicrogyria, bilateral temporooccipital, 612691; Yunis-Varon syndrome, 216340

Publications

• 24598713

Comment on list classification: Based on reviewers' comments.

Created: 11 Dec 2018, 1:19 p.m.

Red List (low evidence)

One consanguineous family reported with bi-allelic variants in this gene and PMG/seizures.

Created: 13 Aug 2018, 11:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, bilateral temporooccipital, MIM#612691

Publications

• 24598713