Epileptic encephalopathy

Gene: EML1

Comment on list classification: Added EML1 as a green gene to the panel after advice from Arianna Tucci. All 3 published unrelated families (PMIDs:24859200 and 28556411) with EML1 variants display epilepsy/seizures.

Created: 24 Oct 2017, 3:31 p.m.

PMID:28556411 (Shaheen et al., 2017) identify a 3rd case: a homozygous truncating variant (NM_004434.2:c.1567C>T, p. [Arg523*]) in EML1 in a 2-year-old girl with congenital hydrocephalus, profound global developmental delay and intractable epilepsy.

Created: 24 Oct 2017, 3:28 p.m.

Upon screening of patients with cortical malformations, Kielar et al (PMID:24859200, 2014) report 3 French brothers with a compound het variant (c.481C>T, p.Arg138*, and c.796A>G, p.T243A) in EML1. Two of the brothers had epilepsy. An unrelated Moroccan boy with congenital hydrocephalus, severe psychomotor delay and seizures was homozygous for a W225R variant.

Created: 24 Oct 2017, 3:28 p.m.

Added to EE panel on advice from Arianna Tucci and 3 published cases.

Created: 24 Oct 2017, 3:28 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Band heterotopia, 600348

Publications

• 24859200
• 28556411