Autosomal dominant partial epilepsy with auditory features syndrome is a rare, relatively benign, hereditary epileptic disorder that is characterized by seizures, seizure-associated hearing alterations and receptive aphasia.[1][2]
| Autosomal dominant partial epilepsy with auditory features syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | epilepsy, hearing and vision hallucinations, and aphasia |
| Causes | Genetic mutation |
| Frequency | rare |
Signs & symptoms
editSymptoms of this disorder usually begin appearing in adolescence-early adulthood.[3] People with this disorder have may auditory symptoms before and during seizures. For example:[4][5]
- Buzzing
- Ringing
- Humming
- Voices
- Music
- Changes in the intensity/volume of sound
- Changes in the senses
- Inability to understand speech (receptive aphasia)
Less commonly, visual hallucinations, smell abnormalities, and/or vertigo can occur before and during seizures. Some people may experience receptive aphasia before temporarily losing consciousness to a seizure.[4]
Some people with this disorder report that there are specific sounds which can trigger their seizures. But most people do not have a known trigger.[4] People with ADPEAF may have different kinds of seizures, but partial seizures are often the most common.[6] The frequency of seizures can vary greatly from person-to-person.[5]
Causes
editVariants in the LGI1 gene or the RELN gene have commonly been hypothesized to be a cause of ADPEAF. However, recent advances have supported the idea that whether someone has ADPEAF is usually not determined by genetics alone. Rather, there are probably multiple factors causing someone to have it.[7][8][9] It is not uncommon for people with ADPEAF to have no known family members with the disorder.[6]
Etymology
editThis condition was first reported in 1995, when Ottman et al. described a family with recurrent seizures and auditory symptoms.[6]
References
edit- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant epilepsy with auditory features". www.orpha.net. Retrieved 2022-05-14.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES". www.epilepsydiagnosis.org. Retrieved 2022-05-14.
- ^ "Autosomal dominant partial epilepsy with auditory features". NORD (National Organization for Rare Disorders). Retrieved 2022-05-14.
- ^ a b c "Autosomal dominant partial epilepsy with auditory features: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-05-14.
- ^ a b Michelucci, Roberto; Nobile, Carlo (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Autosomal Dominant Epilepsy with Auditory Features", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 20301709, retrieved 2022-05-14
- ^ a b c Bisulli, F.; Tinuper, P.; Avoni, P.; Striano, P.; Striano, S.; d’Orsi, G.; Vignatelli, L.; Bagattin, A.; Scudellaro, E.; Florindo, I.; Nobile, C. (2004-06-01). "Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases". Brain. 127 (6): 1343–1352. doi:10.1093/brain/awh151. ISSN 0006-8950. PMID 15090473.
- ^ "Autosomal dominant partial epilepsy with auditory features - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-14.
- ^ Furia, Alessandro; Licchetta, Laura; Muccioli, Lorenzo; Ferri, Lorenzo; Mostacci, Barbara; Mazzoni, Stefania; Menghi, Veronica; Minardi, Raffaella; Tinuper, Paolo; Bisulli, Francesca (2022). "Epilepsy With Auditory Features: From Etiology to Treatment". Frontiers in Neurology. 12: 807939. doi:10.3389/fneur.2021.807939. ISSN 1664-2295. PMC 8829259. PMID 35153984.
- ^ Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Palombo, Flavia; Menghi, Veronica; D'Aurizio, Romina; Leta, Chiara; Stipa, Carlotta; Boero, Giovanni; d'Orsi, Giuseppe; Magi, Alberto (2015-06-01). "Epilepsy with auditory features: A heterogeneous clinico-molecular disease". Neurology: Genetics. 1 (1): e5. doi:10.1212/NXG.0000000000000005. ISSN 2376-7839. PMC 4821078. PMID 27066544.