developmental and epileptic encephalopathy, 42

Findings

No curated finding names developmental and epileptic encephalopathy, 42 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital onset · Infantile onset · Neonatal onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• CACNA1A-related complex neurodevelopmental disorder
• neonatal-onset developmental and epileptic encephalopathy
• undetermined early-onset epileptic encephalopathy

Resolves to: developmental and epileptic encephalopathy, 42

Also called

CACNA1A early infantile epileptic encephalopathyDEE42developmental and epileptic encephalopathy 42early infantile epileptic encephalopathy caused by mutation in CACNA1AEIEE42epileptic encephalopathy, early infantile, 42epileptic encephalopathy, early infantile, 42; EIEE42epileptic encephalopathy, early infantile, type 42