familial sleep-related hypermotor epilepsy
Findings
No curated finding names familial sleep-related hypermotor epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An instance of sleep-related hypermotor epilepsy that is caused by an inherited genomic modification in an individual.
Definition from the Mondo Disease Ontology (MONDO:0000030), read 2026-09-29. CC BY 4.0.
Features
21 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.
- Nocturnal seizuresHPOHP:0031951
- Very frequent (80% to 99% of cases)
- Involuntary movementsHPOHP:0004305
- Frequent (30% to 79% of cases)
- Motor stereotypyHPOHP:0000733
- Frequent (30% to 79% of cases)
- Paroxysmal dystoniaHPOHP:0002268
- Frequent (30% to 79% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- Occasional (5% to 29% of cases)
- DepressionHPOHP:0000716
- Occasional (5% to 29% of cases)
- EEG with focal spikesHPOHP:0011193
- Occasional (5% to 29% of cases)
- Focal hyperkinetic seizureHPOHP:0011174
- Occasional (5% to 29% of cases)
- HyperventilationHPOHP:0002883
- Occasional (5% to 29% of cases)
- Increased theta frequency activity in EEGHPOHP:0031535
- Occasional (5% to 29% of cases)
- Interictal epileptiform activityHPOHP:0011182
- Occasional (5% to 29% of cases)
Show the remaining 9
- Sleep walkingHPOHP:0025236
- Occasional (5% to 29% of cases)
- Suicidal ideationHPOHP:0031589
- Occasional (5% to 29% of cases)
- Urinary incontinenceHPOHP:0000020
- Occasional (5% to 29% of cases)
- Attention deficit hyperactivity disorderHPOHP:0007018
- Very rare (1% to 4% of cases)
- Atypical behaviorHPOHP:0000708
- Very rare (1% to 4% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Very rare (1% to 4% of cases)
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.
- CHRNA4HGNC:1958
- Definitive · ClinGen · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- CHRNB2HGNC:1962
- Definitive · ClinGen · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- CABP4HGNC:1386
- Supportive · Orphanet · Autosomal dominant · 2021
- CHRNA2HGNC:1956
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2020
Where it sits
Other names
5 names
Resolves to: familial sleep-related hypermotor epilepsy
- Also called
- ADNFLEautosomal dominant nocturnal frontal lobe epilepsyepilepsy, nocturnal frontal lobe, familialfamilial sleep-related hyperkinetic epilepsyfamillial SHE