Epilepsy, familial temporal lobe, 1

Preferred Label : Epilepsy, familial temporal lobe, 1;

Symbol : ETL1;

CISMeF acronym : ADLTE; ETL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epilepsy, lateral temporal lobe, autosomal dominant; Epilepsy, partial, with auditory features; ADLTE; ADPEAF;

Description : Autosomal dominant lateral temporal lobe epilepsy is a specific form of temporal lobe epilepsy characterized by partial seizures originating from the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature (summary by Winawer et al., 2000). - Genetic Heterogeneity of Temporal Lobe Epilepsy See also ETL2 (608096), which maps to chromosome 12q; ETL3 (61163), which maps to chromosome 4q; ETL4 (611631), which maps to chromosome 9q; and ETL5 (614417), caused by mutation in the CPA6 gene (609562) on chromosome 8q13.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the glioma-inactivated leucine-rich 1 gene (LGI1, 604619.0001);

Prefixed ID : #600512;

Détails

Origin ID

600512;

UMLS CUI

C4551957;

Automatic exact mappings (from CISMeF team)
- LGI1 wt Allele [NCIt concept]
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [ORDO Gene]
- SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 [HGNC gene]
- leucine rich glioma inactivated 1 [ORDO Gene]
- leucine rich glioma inactivated 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal Dominant Lateral Temporal Lobe Epilepsy [NCIt concept]
- Autosomal dominant epilepsy with auditory features [ICD-11 More detail]
- Autosomal dominant epilepsy with auditory features [ORDO Disease]
- Autosomal dominant epilepsy with auditory features (disorder) [SNOMED CT concept]
- autosomal dominant lateral temporal lobe epilepsy [MeSH concept]
- autosomal dominant lateral temporal lobe epilepsy [MeSH Supplementary Concept]
- familial temporal lobe epilepsy 1 [DO Concept]
DO Cross reference
- familial temporal lobe epilepsy 1 [DO Concept]
Genes related to phenotype
- Leucine-rich gene, glioma-inactivated, 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Cerebrovascular accident [HPO term]
- Deja vu aura [HPO term]
- Epilepsy [HPO term]
- Focal automatism seizure [HPO term]
- Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena [HPO term]
- Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole [HPO term]
- Focal aware seizure [HPO term]
- Focal aware sensory seizure with auditory features [HPO term]
- Focal clonic seizure [HPO term]
- Focal impaired awareness seizure [HPO term]
- Focal sensory seizure with auditory features [HPO term]
- Focal sensory seizure with cephalic sensation [HPO term]
- Focal sensory seizure with olfactory features [HPO term]
- Focal sensory seizure with vestibular features [HPO term]
- Focal sensory seizure with visual features [HPO term]
- Juvenile onset [HPO term]
- Middle age onset [HPO term]
- Secondary generalized tonic-clonic seizures [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Autosomal dominant epilepsy with auditory features [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Lateral Temporal Lobe Epilepsy [NCIt concept]
- Autosomal dominant epilepsy with auditory features [ORDO Disease]
- autosomal dominant lateral temporal lobe epilepsy [MeSH concept]
- autosomal dominant lateral temporal lobe epilepsy [MeSH Supplementary Concept]

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