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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: 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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
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: 22323750Free PMC Article

Recent clinical studies

Diagnosis

Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation.
Michelucci R, Dazzo E, Volpi L, Pasini E, Riguzzi P, Minardi R, Marliani AF, Tappatà M, Bisulli F, Tassinari CA, Nobile C
Epileptic Disord 2020 Aug 1;22(4):443-448. doi: 10.1684/epd.2020.1176. PMID: 32723706
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

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

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

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