developmental and epileptic encephalopathy 98
MONDO:0030472Mondo
Findings
No curated finding names developmental and epileptic encephalopathy 98 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
- Death in infancy · Infantile onset · Juvenile onset · Neonatal onset · Death in childhood · Childhood onset
HPO, annotations 2026-09-02
Features
18 features
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.
- Global developmental delayHPOHP:0001263
- 5 of 6 reported patients
- Focal-onset seizureHPOHP:0007359
- 4 of 6 reported patients
- HypotoniaHPOHP:0001252
- 4 of 6 reported patients
- Refractory status epilepticusHPOHP:0032867
- 2 of 6 reported patients
- Secondary microcephalyHPOHP:0005484
- 2 of 6 reported patients
- Absent speechHPOHP:0001344
- 1 of 6 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 6 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 6 reported patients
- Bilateral tonic-clonic seizure with focal onsetHPOHP:0007334
- 1 of 6 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 6 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 6 reported patients
- Clonic seizureHPOHP:0020221
- 1 of 6 reported patients
Show the remaining 6
- EEG with burst suppressionHPOHP:0010851
- 1 of 6 reported patients
- Perisylvian polymicrogyriaHPOHP:0012650
- 1 of 6 reported patients
- Reduced eye contactHPOHP:0000817
- 1 of 6 reported patients
- Sleep apneaHPOHP:0010535
- 1 of 6 reported patients
- Thick corpus callosumHPOHP:0007074
- 1 of 6 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 6 reported patients
Genes
1 gene
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.
- ATP1A2HGNC:800
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
Other names
1 name
Resolves to: developmental and epileptic encephalopathy 98
- Also called
- DEE98