Medicine:Autosomal dominant partial epilepsy with auditory features
| Autosomal dominant partial epilepsy with auditory features syndrome | |
|---|---|
| Specialty | Medical genetics |
| Symptoms | epilepsy, hearing and vision hallucinations, and aphasia |
| Causes | Genetic mutation |
| Frequency | rare |
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] Unlike other genetic disorders, this one does not affect intellect.[2]
Signs & symptoms
Symptoms of this disorder usually begin appearing in adolescence-early adulthood.[3] People with this disorder have peculiar symptoms before and during seizures, these include:[4][5]
- Buzzing
- Ringing
- Humming
- Voices
- Music
- Changes in the intensity/volume of sound
Some people have receptive aphasia before temporarily losing consciousness to a seizure Less commonly, visual hallucinations, smell abnormalities, and/or vertigo occur before and during seizures.
People with this disorder typically have triggers that trigger their seizures. But for other people, they don't have a known trigger. Fortunately for people with ADPEAF, seizures don't usually occur in a regular basis.
Partial seizures can also occur, during these kind of seizures, a person doesn't lose consciousness. These seizures may evolve into a full seizure (due to spreading through the entire brain instead of a part of it), when this happens, they are called secondary generalized seizures
Causes
This disorder is caused by mutations in either the LGI1 gene or the RELN gene. These mutations are inherited in an autosomal dominant fashion.[6][7] Although some people with ADPEAF have been found to have mutations in other genes.[8]
Etimology
This condition was discovered in 1995, Ottman et al. described a family with recurrent seizures and auditory symptoms. There are only 20 families across the world that are affected with the disorder.[9]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal dominant epilepsy with auditory features" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=101046.
- ↑ "AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES". https://www.epilepsydiagnosis.org/syndrome/adeaf-overview.html.
- ↑ "Autosomal dominant partial epilepsy with auditory features" (in en-US). https://rarediseases.org/gard-rare-disease/autosomal-dominant-partial-epilepsy-with-auditory-features/.
- ↑ "Autosomal dominant partial epilepsy with auditory features: MedlinePlus Genetics" (in en). https://medlineplus.gov/genetics/condition/autosomal-dominant-partial-epilepsy-with-auditory-features/.
- ↑ Michelucci, Roberto; Nobile, Carlo (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A. et al., eds., "Autosomal Dominant Epilepsy with Auditory Features", GeneReviews® (Seattle (WA): University of Washington, Seattle), PMID 20301709, http://www.ncbi.nlm.nih.gov/books/NBK1537/, retrieved 2022-05-14
- ↑ "Autosomal dominant partial epilepsy with auditory features - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2257/autosomal-dominant-partial-epilepsy-with-auditory-features.
- ↑ Furia, Alessandro; Licchetta, Laura; Muccioli, Lorenzo; Ferri, Lorenzo; Mostacci, Barbara; Mazzoni, Stefania; Menghi, Veronica; Minardi, Raffaella et al. (2022). "Epilepsy With Auditory Features: From Etiology to Treatment". Frontiers in Neurology 12: 807939. doi:10.3389/fneur.2021.807939. ISSN 1664-2295. PMID 35153984.
- ↑ Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Palombo, Flavia; Menghi, Veronica; D'Aurizio, Romina; Leta, Chiara; Stipa, Carlotta et al. (2015-06-01). "Epilepsy with auditory features: A heterogeneous clinico-molecular disease" (in en). Neurology Genetics 1 (1): e5. doi:10.1212/NXG.0000000000000005. ISSN 2376-7839. PMID 27066544. PMC 4821078. https://ng.neurology.org/content/1/1/e5.
- ↑ Bisulli, F.; Tinuper, P.; Avoni, P.; Striano, P.; Striano, S.; d’Orsi, G.; Vignatelli, L.; Bagattin, A. et al. (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. https://doi.org/10.1093/brain/awh151.
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