Developmental and epileptic encephalopathy 1

Preferred Label : Developmental and epileptic encephalopathy 1;

Symbol : DEE1;

CISMeF acronym : EIEE1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Infantile spasm syndrome, X-linked 1; Infantile epileptic-dyskinetic encephalopathy; West syndrome, X-linked; Ohtahara syndrome, X-linked; ISSX1; XMESID; EIEE1; Epileptic encephalopathy, early infantile, 1;

Description : Early infantile epileptic encephalopathy is a severe form of epilepsy first reported by Ohtahara et al. (1976). It is characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Approximately 75% of EIEE patients progress to 'West syndrome,' which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG (Kato et al., 2007). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life and included a diagnostic algorithm.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the X-linked aristaless-related homeobox gene (ARX, 300382.0001);

Prefixed ID : #308350;

Details

Origin ID

308350;

UMLS CUI

C3463992;

Currated CISMeF NLP mapping
- Developmental and Epileptic Encephalopathy 1 [NCIt concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH concept]
- Infantile epileptic-dyskinetic encephalopathy [ORDO Disease]
- developmental and epileptic encephalopathy 1 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 1 [DO Concept]
Genes related to phenotype
- Aristaless-related homeobox, X-linked [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Choreoathetosis [HPO term]
- Dyskinesia [HPO term]
- Dysphagia [HPO term]
- Dyspnea [HPO term]
- Dystonia [HPO term]
- EEG with burst suppression [HPO term]
- Epileptic encephalopathy [HPO term]
- Erratic myoclonus [HPO term]
- Focal motor seizure [HPO term]
- Focal-onset seizure [HPO term]
- Generalized myoclonic seizure [HPO term]
- Global brain atrophy [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Intractable seizures [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Neonatal onset [HPO term]
- Severe global developmental delay [HPO term]
- Spastic tetraparesis [HPO term]
- Tonic seizure [HPO term]
- Ventriculomegaly [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
- Infantile epileptic-dyskinetic encephalopathy [ORDO Disease]
- Infantile spasms syndrome [ORDO Disease]
- X-linked spasticity-intellectual disability-epilepsy syndrome [ORDO Disease]
See also inter- (CISMeF)
- Early Infantile Epileptic Encephalopathy with Burst-Suppression [NCIt concept]
- Early infantile epileptic encephalopathy [ORDO Disease]
- Early infantile epileptic encephalopathy with burst-suppression [MedDRA Preferred Term]
- Early infantile epileptic encephalopathy with suppression bursts (disorder) [SNOMED CT concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH Supplementary Concept]
- Infantile epileptic dyskinetic encephalopathy (disorder) [SNOMED CT concept]
- Infantile epileptic-dyskinetic encephalopathy [ORDO Disease]
- aristaless related homeobox [ORDO Gene]
- aristaless related homeobox [HGNC gene]
- infantile spasm [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and Epileptic Encephalopathy 1 [NCIt concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH Supplementary Concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH concept]
Validated automatic mappings to NTBT
- Developmental and Epileptic Encephalopathy [NCIt concept]
- early infantile epileptic encephalopathy [Disease (Nov.)]

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