epilepsy with myoclonic atonic seizures
Findings
No curated finding names epilepsy with myoclonic atonic seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.
Definition from the Mondo Disease Ontology (MONDO:0014633), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
47 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.
- Generalized myoclonic-atonic seizureHPOHP:0011170
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Generalized non-motor (absence) seizureHPOHP:0002121
- 8 of 9 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 8 of 9 reported patients
- Very rare (1% to 4% of cases)
- EEG with focal spike wavesHPOHP:0011197
- Very frequent (80% to 99% of cases)
- Autistic behaviorHPOHP:0000729
Show the remaining 35
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- Lack of peer relationshipsHPOHP:0002332
- Frequent (30% to 79% of cases)
- Abnormal emotional stateHPOHP:0100851
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- 1 of 10 reported patients
- Occasional (5% to 29% of cases)
- Brain imaging abnormalityHPOHP:0410263
- Occasional (5% to 29% of cases)
- EEG with generalized slow activityHPOHP:0010845
Genes
7 genes
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.
- SLC6A1HGNC:11042
- Definitive · Illumina · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Unknown · 2021
- AP2M1HGNC:564
- Supportive · Orphanet · Unknown · 2021
- CHD2HGNC:1917
- Supportive · Orphanet · Unknown · 2021
- NEXMIFHGNC:29433
- · Orphanet · Unknown · 2021
Where it sits
Other names
9 names
Resolves to: epilepsy with myoclonic atonic seizures
- Also called
- Doose syndromeEMASEMAtSepilepsy with myoclonic-astatic seizuresepilepsy with myoclonic-atonic seizuresMAEMyoclonic Atonic Epilepsymyoclonic-astatic epilepsy in early childhoodmyoclonic-atonic epilepsy