Autosomal dominant epilepsy with auditory features(ADPEAF; ADLTE)

MedGen UID:: 325326
•Concept ID:: C1838062
•: Disease or Syndrome

Synonyms:	Autosomal Dominant Lateral Temporal Lobe Epilepsy; Autosomal dominant partial epilepsy with auditory features; Epilepsy, Lateral Temporal Lobe, Autosomal Dominant; Epilepsy, Partial, With Auditory Features
SNOMED CT:	Partial epilepsy with auditory aura (784377008); Autosomal dominant epilepsy with auditory features (784377008); Autosomal dominant lateral temporal lobe epilepsy (784377008)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	MICAL1, LGI1, RELN

Monarch Initiative:	MONDO:0010898
OMIM®:	600512; 604619
Orphanet:	ORPHA101046

Definition

A rare genetic familial partial epilepsy disease with characteristics of focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia, presenting in two or more family members and having a relatively benign evolution. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal dominant epilepsy with auditory features
- CROGVAdolescent/adult onset autosomal dominant epilepsy with auditory features
- CROGVEpilepsy, familial temporal lobe, 1

Familial partial epilepsy
- Autosomal dominant epilepsy with auditory features
  - Adolescent/adult onset autosomal dominant epilepsy with auditory features
  - Epilepsy, familial temporal lobe, 1

Follow this link to review classifications for Autosomal dominant epilepsy with auditory features in Orphanet.

Professional guidelines

PubMed

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.

Ho YY, Ionita-Laza I, Ottman R
Neurology 2012 Feb 21;78(8):563-8. Epub 2012 Feb 8 doi: 10.1212/WNL.0b013e318247ccbf. PMID: 22323750 Free PMC Article

See all (1)

Recent clinical studies

Therapy

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

Sadleir LG, Agher D, Chabrol E, Elkouby L, Leguern E, Paterson SJ, Harty R, Bellows ST, Berkovic SF, Scheffer IE, Baulac S
Epilepsy Res 2013 Dec;107(3):311-7. Epub 2013 Oct 8 doi: 10.1016/j.eplepsyres.2013.09.008. PMID: 24206907

See all (1)

Prognosis

Ictal aphasia in LGI1-related autosomal dominant epilepsy with auditory features.

Moloney PB, McHugh J, O'Byrne J, Llamas Y, Lynch T, McGovern E
Pract Neurol 2022 Aug;22(4):317-320. Epub 2022 Mar 30 doi: 10.1136/practneurol-2022-003366. PMID: 35354661

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Autosomal dominant epilepsy with auditory features(ADPEAF; ADLTE)

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Therapy

Prognosis

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity