early-infantile DEE
Findings
No curated finding names early-infantile DEE yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neonatal/infantile epilepsy syndrome characterized by frequent drug-resistant seizures that begin ≤3 months of age, with abnormal interictal EEG and neurological examination. In up to 80% of patients, EIDEE is caused by an underlying structural, genetic, or metabolic reason.
Definition from the Mondo Disease Ontology (MONDO:0800491), read 2026-09-29. CC BY 4.0.
Features
63 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.
- SeizureHPOHP:0001250
- Obligate (100% of cases)
- Epileptic encephalopathyHPOHP:0200134
- Very frequent (80% to 99% of cases)
- Focal motor seizureHPOHP:0011153
- Very frequent (80% to 99% of cases)
- Generalized myoclonic seizureHPOHP:0002123
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- EEG with burst suppressionHPOHP:0010851
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Focal tonic seizureHPOHP:0011167
- Frequent (30% to 79% of cases)
Show the remaining 51
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypsarrhythmiaHPOHP:0002521
- Frequent (30% to 79% of cases)
- LethargyHPOHP:0001254
- Frequent (30% to 79% of cases)
- Poor head controlHPOHP:0002421
- Frequent (30% to 79% of cases)
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
- Recurrent respiratory infectionsHPOHP:0002205
- Frequent (30% to 79% of cases)
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.
- GAD1HGNC:4092
- Definitive · ClinGen · Autosomal recessive · 2021
Where it sits
Other names
12 names
Resolves to: early-infantile DEE
- Also called
- early infantile epileptic encephalopathyearly infantile epileptic encephalopathy with suppression-burstsearly myoclonic encephalopathyearly myoclonic encephalopathy with suppression-burstsearly-infantile developmental and epileptic encephalopathy syndromeEIDEEEIEEEMEepileptic encephalopathy, early infantileepileptic encephalopathy, infantileinfantile epileptic encephalopathyOhtahara syndrome