Early onset or syndromic epilepsy

Gene: EXOC7

Comment on list classification: Three patients from two unrelated families with myoclonic seizures, and additional focal epilepsy with versive head movement in one patient (onset at birth/6 months, respectively).

Additional unrelated cases required before inclusion on a diagnostic panel; and therefore, rating Amber in anticipation of further publications (added to watchlist).

Created: 7 Sep 2020, 3 p.m. | Last Modified: 7 Sep 2020, 3 p.m.

Panel Version: 2.150

PMID: 32103185 (2020) - 4 families with 8 affected individuals with brain atrophy, seizures, and developmental delay, and in more severe cases microcephaly and infantile death. Four novel homozygous or comp.heterozygous variants found in EXOC7, which segregated with disease in the families. They showed that EXOC7, a member of the mammalian exocyst complex, is highly expressed in developing human cortex. In addition, a zebrafish model of Exoc7 deficiency recapitulates the human disorder with increased apoptosis and decreased progenitor cells during telencephalon development, suggesting that the brain atrophy in human cases reflects neuronal degeneration.
Sources: Literature

Created: 7 Sep 2020, 2:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Brain atrophy; Seizures; Developmental delay; Microcephaly

Publications

• 32103185