İşitsel Özellikli Epilepsiler
Özet
İşitsel özellikli epilepsiler (İÖE), yeni ILAE sınıflanmasında değişken yaş başlangıçlı fokal epileptik sendromlar başlığı altında yer almaktadır. Eski sınıflamada lateral temporal lob epilepsileri arasında bulunan ‘Otozomal dominant lateral temporal lob epilepsisi’ ve ‘İşitsel özellikleri olan otozomal dominant parsiyel epilepsi’ terimlerinin yerine İşitsel Özellikli Epilepsi’ olarak yeniden adlandırıldı. Son sınıflamada etiyoloji genetik, yapısal ve genetik-yapısal olarak belirtilmiştir. Etiyolojisi halen net bilinmemekle birlikte büyük çoğunluğu oluşturan ailesel İÖE serileri nedeni ile genetik nedenler öne çıkmaktadır.
The new ILAE classification classifies Epilepsy with Auditory Features (EAF) as a focal epileptic syndrome with age-changing onset. In the old classification renamed lateral temporal lobe epilepsy to ‘Autosomal dominant lateral temporal lobe epilepsy‘ and ‘Auditive-specific autosomal dominant partial epilepsy‘ final classification, etiology is defined as genetic, structural, and genetic-structural. The etiology is still unclear, but genetic causes are prominent because of the large majority of family EAF sequences.
Referanslar
Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer I. International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1443-1474.
Ormerod JA. On epilepsy, in its relation to ear-disease. Brain. 1883;6:20–43.
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet. 1995;10(1):117-8.
Michelucci R, Pulitano P, Di Bonaventura C, Binelli S, Luisi C, Pasini E, et al. The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations. Epilepsy Behav.2017;68:103– 7.
Kobayashi E, Santos NF, Torres FR, et al. Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. Arch Neurol. 2003;60:1546– 51.
Tessa C, Michelucci R, Nobile C, et al. Structural anomaly of left lateral temporal lobe in epilepsy due to mutated LGI1. Neurology.2007;69:1298– 300.
Furia A, Licchetta L, Muccioli L, et al. Epilepsy With Auditory Features: From Etiology to Treatment. Front Neurol.2022;12:807939.
Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet. 2002;30(3):335-41.
Yamagata A, Fukai S. Insights into themechanisms of epilepsy from structural biology of LGI1–ADAM22. CellMol Life Sci.2020;77:26774.
Ohkawa T, Fukata Y, Yamasaki M, et al.Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors.JNeurosci.2013;33:18161–74.
Van Sonderen A, Thijs RD, Coenders EC, et al. Anti-LGI1 encephalitis: clinical syndrome and long-term follow-up. Neurology.2016;87:144956.
Arcangelo GD, Miao GG, Chent S, Soares HD, Morgan JI, Curran T.A protein related to extracellular matrix proteins deleted in the Mouse mutant reeler. Nature.1995;374:719–2323.
Chang BS, Duzcan F, Kim S, et al.The role of RELN in lissencephaly and neuropsychiatric disease. AmJMed GenetPartBNeuropsychiatrGenet.2007;144:58–63.
Yu NN, Tan MS, Yu JT, Xie AM, Tan L. The role of reelin signaling in Alzheimer’s disease. Mol Neurobiol.2016;53:5692700.
Dazzo E, Fanciulli M, Serioli E, et al. Heterozygous reelin mutations cause autosomal dominant lateral temporal epilepsy. Am J Hum Genet.2015;96:992–1000.
Baulac S, Baldassari S. DEPDC5 Related Epilepsy. (2016 Sep 29-updated 2023 Mar 9). In: Adam MP, Feldman J, Mirzaa GM, et al. (eds). GeneReviews (Internet). University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.gov/books/NBK385626/
Bisulli F, Rinaldi C, Pippucci T, et al. Epilepsy with auditory features: Contribution of known genes in 112 patients. Seizure. 2021;85:115-118.
Kesim YF, Uzun GA, Yucesan E, Tuncer FN, et al. Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation. Epilepsy Res. 2016;120:73-8.
de Leede-Smith S, Barkus E. A comprehensive review of auditory verbal hallucinations: lifetime prevalence, correlates and mechanisms in healthy and clinical individuals. Front Hum Neurosci. 2013;(16);7:367.
Coebergh JAF, Lauw RF, Sommer IEC, Blom JD. Musical hallucinations and their relation with epilepsy. J Neurol. 2019;266(6):1501-1515.
Serino A, Heydrich L, Kurian M, Spinelli L, Seeck M, Blanke O. Auditory verbal hallucinations of epileptic origin. Epilepsy Behav.2014;31:181–6.
Michelucci R, Nobile C. (2007- Updated 2019). Autosomal Dominant Epilepsy with Auditory Features. In: Adam MP, Feldman J, Mirzaa GM, et al. (eds). GeneReviews® [Internet]. University of Washington, Seattle; 1993-2024. https://www.ncbi.nlm.nih.gov/books/
Currie S, Heathfield KW, Henson RA, Scott DF. Clinical course and prognosis of temporal lobe epilepsy. A survey of 666 patients. Brain.1971;94:173–190.
Bisulli F, Tinuper P, Avoni P, et al. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain.2004;127:1343–1352.
Bernardini F, Attademo L, Blackmon K, Devinsky O. Musical hallucinations: a brief review of functional neuroimaging findings. CNS Spectr. 2017;22(5):397-403.
Zhang L, Zhu X, Zou X, Chen L. Factors predicting uncontrolled seizures in epilepsy with auditory features. Seizure. 2019;65:55-61.
Zhang L, Zhu X, Peng A, et al. Predictors of drug-resistance in epilepsy with auditory features. Epilepsy Res. 2020;164:106353.
Bisulli F, Menghi V, Vignatelli L, et al. Epilepsy with auditory features: long-term outcome and predictors of terminal remission. Epilepsia. 2018;59:834–43.
Referanslar
Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer I. International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022;63(6):1443-1474.
Ormerod JA. On epilepsy, in its relation to ear-disease. Brain. 1883;6:20–43.
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet. 1995;10(1):117-8.
Michelucci R, Pulitano P, Di Bonaventura C, Binelli S, Luisi C, Pasini E, et al. The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations. Epilepsy Behav.2017;68:103– 7.
Kobayashi E, Santos NF, Torres FR, et al. Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras. Arch Neurol. 2003;60:1546– 51.
Tessa C, Michelucci R, Nobile C, et al. Structural anomaly of left lateral temporal lobe in epilepsy due to mutated LGI1. Neurology.2007;69:1298– 300.
Furia A, Licchetta L, Muccioli L, et al. Epilepsy With Auditory Features: From Etiology to Treatment. Front Neurol.2022;12:807939.
Kalachikov S, Evgrafov O, Ross B, et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet. 2002;30(3):335-41.
Yamagata A, Fukai S. Insights into themechanisms of epilepsy from structural biology of LGI1–ADAM22. CellMol Life Sci.2020;77:26774.
Ohkawa T, Fukata Y, Yamasaki M, et al.Autoantibodies to epilepsy-related LGI1 in limbic encephalitis neutralize LGI1-ADAM22 interaction and reduce synaptic AMPA receptors.JNeurosci.2013;33:18161–74.
Van Sonderen A, Thijs RD, Coenders EC, et al. Anti-LGI1 encephalitis: clinical syndrome and long-term follow-up. Neurology.2016;87:144956.
Arcangelo GD, Miao GG, Chent S, Soares HD, Morgan JI, Curran T.A protein related to extracellular matrix proteins deleted in the Mouse mutant reeler. Nature.1995;374:719–2323.
Chang BS, Duzcan F, Kim S, et al.The role of RELN in lissencephaly and neuropsychiatric disease. AmJMed GenetPartBNeuropsychiatrGenet.2007;144:58–63.
Yu NN, Tan MS, Yu JT, Xie AM, Tan L. The role of reelin signaling in Alzheimer’s disease. Mol Neurobiol.2016;53:5692700.
Dazzo E, Fanciulli M, Serioli E, et al. Heterozygous reelin mutations cause autosomal dominant lateral temporal epilepsy. Am J Hum Genet.2015;96:992–1000.
Baulac S, Baldassari S. DEPDC5 Related Epilepsy. (2016 Sep 29-updated 2023 Mar 9). In: Adam MP, Feldman J, Mirzaa GM, et al. (eds). GeneReviews (Internet). University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.gov/books/NBK385626/
Bisulli F, Rinaldi C, Pippucci T, et al. Epilepsy with auditory features: Contribution of known genes in 112 patients. Seizure. 2021;85:115-118.
Kesim YF, Uzun GA, Yucesan E, Tuncer FN, et al. Screening LGI1 in a cohort of 26 lateral temporal lobe epilepsy patients with auditory aura from Turkey detects a novel de novo mutation. Epilepsy Res. 2016;120:73-8.
de Leede-Smith S, Barkus E. A comprehensive review of auditory verbal hallucinations: lifetime prevalence, correlates and mechanisms in healthy and clinical individuals. Front Hum Neurosci. 2013;(16);7:367.
Coebergh JAF, Lauw RF, Sommer IEC, Blom JD. Musical hallucinations and their relation with epilepsy. J Neurol. 2019;266(6):1501-1515.
Serino A, Heydrich L, Kurian M, Spinelli L, Seeck M, Blanke O. Auditory verbal hallucinations of epileptic origin. Epilepsy Behav.2014;31:181–6.
Michelucci R, Nobile C. (2007- Updated 2019). Autosomal Dominant Epilepsy with Auditory Features. In: Adam MP, Feldman J, Mirzaa GM, et al. (eds). GeneReviews® [Internet]. University of Washington, Seattle; 1993-2024. https://www.ncbi.nlm.nih.gov/books/
Currie S, Heathfield KW, Henson RA, Scott DF. Clinical course and prognosis of temporal lobe epilepsy. A survey of 666 patients. Brain.1971;94:173–190.
Bisulli F, Tinuper P, Avoni P, et al. Idiopathic partial epilepsy with auditory features (IPEAF): a clinical and genetic study of 53 sporadic cases. Brain.2004;127:1343–1352.
Bernardini F, Attademo L, Blackmon K, Devinsky O. Musical hallucinations: a brief review of functional neuroimaging findings. CNS Spectr. 2017;22(5):397-403.
Zhang L, Zhu X, Zou X, Chen L. Factors predicting uncontrolled seizures in epilepsy with auditory features. Seizure. 2019;65:55-61.
Zhang L, Zhu X, Peng A, et al. Predictors of drug-resistance in epilepsy with auditory features. Epilepsy Res. 2020;164:106353.
Bisulli F, Menghi V, Vignatelli L, et al. Epilepsy with auditory features: long-term outcome and predictors of terminal remission. Epilepsia. 2018;59:834–43.
