ORPHA:98784
Sleep-related hypermotor epilepsy
Synonyms: ADNFLE · Autosomal dominant nocturnal frontal lobe epilepsy · Autosomal dominant sleep-related hypermotor epilepsy · SHE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare seizure disorder characterized by intermittent dystonia and/or choreoathetoid movements that occur during sleep. The clusters of nocturnal motor seizures are often stereotyped and brief.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sleep-related hypermotor epilepsy | ADNFLE · Autosomal dominant nocturnal frontal lobe epilepsy · Autosomal dominant sleep-related hypermotor epilepsy · SHE |
| fr | Epilepsie avec crises hypermotrices liées au sommeil | ADNFLE · Epilepsie frontale à crises nocturnes autosomique dominante · Epilepsie hypermotrice du sommeil autosomique dominante · SHE |
| de | Schlafassoziierte hypermotorische Epilepsie | ADNFLE · Autosomal-dominante Schlafassoziierte hypermotorische Epilepsie · Autosomal-dominante nächtliche Frontallappenepilepsie · SHE |
| es | Epilepsia hipermotora asociada al sueño | ADNFLE · Epilepsia del lóbulo frontal nocturna autosómica dominante · Epilepsia hipermotora asociada al sueño autosómica dominante |
| it | Epilessia notturna del lobo frontale autosomica dominante | ADNFLE |
| nl | Slaapgerelateerde hypermotorische epilepsie | ADNFLE · Autosomaal dominante nachtelijke frontaalkwabepilepsie · Autosomaal dominante slaapgerelateerde hypermotorische epilepsie · SHE |
| pt | Epilepsia noturna do lobo frontal autossómica dominante | |
| pl | Autosomalna dominująca padaczka nocna płata czołowego | ADNFLE |
| cs | Autozomálně dominantní noční epilepsie frontálního laloku | ADNFLE |
| uk | Аутосомно-домінантна нічна лобна епілепсія | ADNFLE · Аутосомно-домінантна гіпермоторна епілепсія, повязана зі сном |
| zh | 常染色体显性遗传夜间额叶癫痫 | 常染色体显性遗传睡眠相关过度运动性癫痫 |
| tr | Otozomal dominant noktürnal frontal lob epilepsisi | ADNFLE · Otozomal dominant uyku-ilişkili hipermotor epilepsi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600513 | BTNT | validated | |
| OMIM | 603204 | BTNT | validated | |
| OMIM | 605375 | BTNT | validated | |
| OMIM | 610353 | BTNT | validated | |
| OMIM | 615005 | BTNT | validated | |
| ICD-10 | G40.0 | NTBT | attributed | validated |
| ICD-11 | 8A61.4Y | NTBT | index | validated |
| MONDO | 0020300 | E | validated | |
| MeSH | C579932 | E | validated | |
| UMLS | C3696898 | E | validated | |
| GARD | 11918 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:98748Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
rare genetic diseases - ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases - ORPHA:699645Variable age-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:98125OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect referred to · inactive
- ORPHA:98812Paroxysmal hypnogenic dyskinesia moved to · inactive
4
Genes
7 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DEPDC5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18423 | ENSG00000100150 | 614191 | 22q12.2-q12.3 | DEP domain containing 5, GATOR1 subcomplex subunit | 23542697[PMID]_23542701[PMID] |
| CABP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1386 | ENSG00000175544 | 608965 | 11q13.2 | calcium binding protein 4 | 29108277[PMID] |
| CHRNA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1956 | ENSG00000120903 | 118502 | 8p21.2 | cholinergic receptor nicotinic alpha 2 subunit | 16826524[PMID]_20301348[PMID] |
| CHRNA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:1958 | ENSG00000101204 | 118504 | 20q13.33 | cholinergic receptor nicotinic alpha 4 subunit | 7550350[PMID]_20301348[PMID] |
| CHRNB2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1962 | ENSG00000160716 | 118507 | 1q21.3 | cholinergic receptor nicotinic beta 2 subunit | 11062464[PMID]_20301348[PMID] |
| CRH | Disease-causing germline mutation(s) in | Assessed | HGNC:2355 | ENSG00000147571 | 122560 | 8q13.1 | corticotropin releasing hormone | 16222669[PMID]_20301348[PMID] |
| KCNT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18865 | ENSG00000107147 | 608167 | 9q34.3 | potassium sodium-activated channel subfamily T member 1 | 23086396[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 families | Worldwide | Family(ies) | Validated | 20301348[PMID] | |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
22 annotations · validated 2021-03-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031951 | Nocturnal seizures | |
| Frequent (79-30%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0004305 | Involuntary movements | |
| HP:0002268 | Paroxysmal dystonia | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0100543 | Cognitive impairment | |
| HP:0025237 | Confusional arousal | |
| HP:0000716 | Depression | |
| HP:0011193 | EEG with focal spikes | |
| HP:0011174 | Hyperkinetic seizures | |
| HP:0002883 | Hyperventilation | |
| HP:0031535 | Increased theta frequency activity in EEG | |
| HP:0011182 | Interictal epileptiform activity | |
| HP:0025236 | Somnambulism | |
| HP:0031589 | Suicidal ideation | |
| HP:0000020 | Urinary incontinence | |
| Very rare (<4-1%) | ||
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0025235 | Non-rapid eye movement parasomnia | |
| HP:0001345 | Psychotic mentation | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25194481[PMID]_20301348[PMID]_30234941[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98784
- This record as JSON: /data/d/98784.json