Appearance

Active: dark

Light warmth: 0%0 = neutral light, 100 = warm sepia light.Dark depth: 0%0 = neutral dark, 100 = midnight black.

Accent

Custom

Corner radius

Font

Layout

Sidebar width: 224pxChat width: 50%

Data refresh

Auto-ingest on app launchAuto-ingest source

Runs once per app session in the background and keeps existing data if source APIs are unavailable.

Annotation style

HighlightStrike

User/group key (shared note namespace)

Ask · OpenAI

Refine NL queries with model

Requires OPENAI_API_KEY on the server. Heuristics always run first.

← Disease database

neonatal/infantile-onset epilepsy syndrome with developmental and epileptic encephalopathy

A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments.

Therapeutic area: Neurology · Rare Disease
Rarity: Rare
Prevalence: ~100k patients (est.)
MONDO: MONDO:0800490

Overview

A neonatal/infantile epilepsy syndrome characterized by the onset of non-self-limiting seizures and developmental regression or delay in infants/neonates. This condition is typically caused by genetic mutations that disrupt normal brain development, affecting both cognitive and motor development that is not responsive to typical seizure treatments.

Content last reviewed: 2026-06