KCNQ2-related developmental and epileptic encephalopathy
Synonyms: KCNQ2-DEE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KCNQ2-related developmental and epileptic encephalopathy | KCNQ2-DEE |
| fr | Encéphalopathie développementale et épileptique associée à KCNQ2 | = en |
| de | KCNQ2-assoziierte entwicklungsbedingte und epileptische Enzephalopathie | = en |
| es | Encefalopatía epiléptica y del desarrollo asociada a KCNQ2 | EED-KCNQ2 |
| it | Encefalopatia epilettica correlata a KCNQ2 | KCNQ2-NEE |
| nl | KCNQ2-gerelateerde epileptische encefalopathie met ontwikkelingsstoornis | = en |
| pt | Encefalopatia epiléptica e do desenvolvimento KCNQ2-relacionada | = en |
| pl | Encefalopatia padaczkowa zależna od KCNQ2 | KCNQ2-NEE · Encefalopatia padaczkowa noworodków zależna od KCNQ2 |
| cs | KCNQ2-vázaná epileptická encefalopatie | KCNQ2-NEE · KCNQ2-vázaná epileptická encefalopatie novorozenců |
| uk | Епілептична енцефалопатія, повязана з KCNQ2 | KCNQ2-NEE · Неонатальна епілептична енцефалопатія, повязана з KCNQ2 |
| zh | KCNQ2相关的癫痫性脑病 | KCNQ2相关新生儿癫痫性脑病 |
| tr | KCNQ2-ilişkili epileptik ensefalopati | KCNQ2-NEE · KCNQ2-ilişkili yenidoğan epileptik ensefalopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613720 | E | validated | |
| ICD-10 | G40.4 | NTBT | attributed | validated |
| MONDO | 0013387 | E | validated | |
| UMLS | C4755256 | E | validated | |
| GARD | 13060 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNQ2 | Disease-causing germline mutation(s) in | Assessed | HGNC:6296 | ENSG00000075043 | 602235 | 20q13.33 | potassium voltage-gated channel subfamily Q member 2 | 23621294[PMID]_20437616[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 families | Worldwide | Family(ies) | Validated | 20437616[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20437616[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2017-03-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001249 | Intellectual disability | |
| Very frequent (99-80%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0010851 | EEG with burst suppression | |
| HP:0200134 | Epileptic encephalopathy | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0002453 | Abnormal globus pallidus morphology | |
| HP:0002104 | Apnea | |
| HP:0002181 | Cerebral edema | |
| HP:0001332 | Dystonia | |
| HP:0011097 | Epileptic spasm | |
| HP:0001041 | Facial erythema | |
| HP:0011968 | Feeding difficulties | |
| HP:0001252 | Hypotonia | |
| HP:0002540 | Inability to walk | |
| HP:0000980 | Pallor | |
| HP:0007015 | Poor gross motor coordination | |
| HP:0012736 | Profound global developmental delay | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002059 | Cerebral atrophy | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0002521 | Hypsarrhythmia | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 23621294[PMID]_12742592[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/439218
- This record as JSON: /data/d/439218.json