CHD2 mutations in Lennox–Gastaut syndrome

A Novel Genetic Syndrome Caused by Haploinsufficiency of CHD2, a Regulator of Chromatin Structure

“…Tel: 403-955-7377; Email: bob.argiropoulos@albertahealthservices.ca insufficiency, in our review of the literature, at least 21 individuals with unique de novo heterozygous CHD2 mutations have thus far been described (Table 2). These individuals were ascertained from a cohort of patients with epileptic encephalopathies, ID, and ASD [10][11][12][13][14][15][16][17][18]. The phenotype of CHD2 mutation carriers is comparable to chromosome 15q26.1 microdeletion carriers, and includes mild-to-profound developmental delay with instances of regression, ID, ASD, behavioural problems and seizures.…”

Single-Gene Determinants of Epilepsy Comorbidity

“…Several seizure types have been documented in mice homozygous for Glut1 deletion (Wang et al 2006), validating the complex seizure phenotype of this gene. Lennox -Gastaut syndrome is another epileptic encephalopathy with multiple seizure types (Camfield 2011) and emerging gene candidates (Lund et al 2014;Terrone et al 2014). …”

Marijuana Compounds: A Non-Conventional Therapeutic Approach to Epilepsy in Children

“…Lennox-Gastaut syndrome has a heterogeneous etiology. Recent findings suggest that CHD2 and SCN1A mutations are important in the etiological spectrum of LGS disorder [78,79]. Lennox-Gastaut syndrome may be considered secondary network epilepsy because the unifying epileptic manifestations of the disorder, which reflect network dysfunction, rather than the specific initiating process [80].…”