Epileptic encephalopathy

Gene: YWHAG

I don't know

Comment on list classification: Changed from Amber to Green, there is enough evidence to support variants in the gene YWHAG causing EE phenotype

Created: 10 May 2018, 3:43 p.m.

Comment on publications: added publications to support the mouse model: PMID 26297819, 27288018

Created: 10 May 2018, 3:42 p.m.

Comment on publications: Guella et al. (2017) PMID: 28777935 reported 4 unrelated patients with early infantile epileptic encephalopathy-56 (EIEE56; 617665) and identified de novo heterozygous missense mutations in the YWHAG gene. The authors also noted that 2 other patients with de novo heterozygous mutations in the YWHAG gene (c.148A-C, K50Q; c.398A-C, Y133S) had been reported by De Rubeis et al. (2014) PMID:25363760 and the Deciphering Developmental Disorders Study (2017) PMID:28135719, but no clinical details had been provided. There is also a mouse model to support this correlation : Guella et al. (2017) noted that a decrease or increase in Ywhag in mice leads to delayed neuronal migration of pyramidal neurons in the developing brain (PMID: 26297819, 27288018) and that atypical neuronal migration has been implicated in epilepsy.

Created: 10 May 2018, 3:38 p.m.

Added from a recommendation by Helen Brittain (Birmingham Women’s and Children’s NHS Foundation Trust)

Created: 10 May 2018, 2:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Epileptic encephalopathy, early infantile 56, 617665; Seizures, multiple types

Publications

• 28777935