Uyku İlişkili Hipermotor Epilepsi
Özet
SHE, uykuda görülen hipermotor nöbetlerle karakterize nadir bir epilepsi türüdür. Öykü ve klinik semiyoloji ile tanı konur. Genelde interiktal bulgu görülmemesi nedeniyle tanı koymak güçtür. Bu neden tanı koymada video EEG bulguları kritik öneme sahiptir. Genellikle ilk tercih edilen ilaç gece uykudan önce, düşük doz karbamazepindir. İlaca dirençli SHE olgularında epilepsi cerrahisi de bir seçenek olarak akılda tutulmalıdır. SUDEP açısından önemli risk oluşturur ancak erken tanı ve uygun tedavi ile prognoz iyidir. Nörolojik ve genetik temelleri üzerine daha fazla araştırmaya ihtiyaç vardır.
SHE is a rare type of epilepsy characterized by hypermotor seizures during sleep. Diagnosis relies on history and clinical semiology. Diagnosis can be challenging due to the absence of interictal findings. Therefore, video EEG findings play a critical role in diagnosis. Carbamazepine at a low dose before bedtime is typically the first-choice medication. Epilepsy surgery should be considered as an option for drug-resistant SHE cases. SUDEP poses a significant risk, yet with early diagnosis and appropriate treatment, the prognosis is favorable. Further research is needed on its neurological and genetic foundations.
Referanslar
Pedley TA, Guilleminault C. Episodic nocturnal wanderings responsive to anticonvulsant drug therapy. Annals of Neurology. 1977 Jul;2(1):30–5. https://doi.org/10.1002/ana.410020105
Lugaresi E, Cirignotta F. Hypnogenic Paroxysmal Dystonia: Epileptic Seizure or a New Syndrome? Sleep. 1981 Sep;4(2):129–38. https://doi.org/10.1093/sleep/4.2.129
Lugaresi E, Cirignotta F, Montagna P. Nocturnal paroxysmal dystonia. Journal of Neurology, Neurosurgery & Psychiatry. 1986 Apr 1;49(4):375–80. https://doi.org/10.1136/jnnp.49.4.375
Waterman K, Purves SJ, Kosaka B, Strauss E, Wada JA. An epileptic syndrome caused by mesial frontal lobe seizure foci. Neurology. 1987 Apr;37(4):577–577. https://doi.org/10.1212/WNL.37.4.577
Tinuper P, Bisulli F, Cross JH, Hesdorffer D, Kahane P, Nobili L, et al. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology. 2016 May 10;86(19):1834–42. https://doi.org/10.1212/WNL.0000000000002666
Menghi V, Bisulli F, Tinuper P, Nobili L. Sleep-related hypermotor epilepsy: prevalence, impact and management strategies. NSS. 2018 Oct;Volume 10:317–26. https://doi.org/10.2147/NSS.S152624
Vignatelli L, Bisulli F, Giovannini G, Licchetta L, Naldi I, Mostacci B, et al. Prevalence of Nocturnal Frontal Lobe Epilepsy in the Adult Population of Bologna and Modena, Emilia-Romagna Region, Italy. Sleep. 2015 Mar 1;38(3):479–85. https://doi.org/10.5665/sleep.4514
Derry CP, Duncan S. Sleep and epilepsy. Epilepsy & Behavior. 2013 Mar;26(3):394–404. https://doi.org/10.1016/j.yebeh.2012.10.033
Weinstock A, Giglio P, Kerr SL, Duffner PK, Cohen ME. Hyperkinetic Seizures in Children. J Child Neurol. 2003 Aug;18(8):517–24. https://doi.org/10.1177/08830738030180080801
Provini F. Nocturnal frontal lobe epilepsy: A clinical and polygraphic overview of 100 consecutive cases. Brain. 1999 Jun 1;122(6):1017–31. https://doi.org/10.1093/brain/122.6.1017
Wirrell EC. Epilepsy‐related Injuries. Epilepsia. 2006 Oct;47(s1):79–86. https://doi.org/10.1111/j.1528-1167.2006.00666.x
Thomas RH, King WH, Johnston JA, Smith PEM. Awake seizures after pure sleep-related epilepsy: a systematic review and implications for driving law. Journal of Neurology, Neurosurgery & Psychiatry. 2010 Feb 1;81(2):130–5. https://doi.org/10.1136/jnnp.2009.181438
Tinuper P, Bisulli F. From nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge. Seizure. 2017 Jan;44:87–92. https://doi.org/10.1016/j.seizure.2016.11.023
Licchetta L, Bisulli F. Sleep-related hypermotor epilepsy. 2016; doi: 10.1212/WNL.0000000000002666.
Losurdo A, Proserpio P, Cardinale F, Gozzo F, Tassi L, Mai R, et al. Drug-resistant focal sleep related epilepsy: Results and predictors of surgical outcome. Epilepsy Research. 2014 Jul;108(5):953–62. https://doi.org/10.1016/j.eplepsyres.2014.02.016
Manni R, Terzaghi M, Repetto A. The FLEP scale in diagnosing nocturnal frontal lobe epilepsy, NREM and REM parasomnias: Data from a tertiary sleep and epilepsy unit. Epilepsia. 2008 Sep;49(9):1581–5. https://doi.org/10.1111/j.1528-1167.2008.01602.x
Yoshimura R, Yanagihara N, Terao T, Minami K, Abe K, Izumi F. Inhibition by carbamazepine of various ion channels-mediated catecholamine secretion in cultured bovine adrenal medullary cells. Naunyn-Schmiedeberg’s Arch Pharmacol. 1995 Sep [cited 2023 Dec 30];352(3). https://doi.org/10.1007/BF00168560
Picard F, Bertrand S, Steinlein OK, Bertrand D. Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine. Epilepsia. 1999 Sep;40(9):1198–209. https://doi.org/10.1111/j.1528-1157.1999.tb00848.x
Raju GP, Sarco DP, Poduri A, Riviello JJ, Bergin AMR, Takeoka M. Oxcarbazepine in Children With Nocturnal Frontal-Lobe Epilepsy. Pediatric Neurology. 2007 Nov;37(5):345–9. https://doi.org/10.1016/j.pediatrneurol.2007.06.013
Nobili L, Francione S, Mai R, Cardinale F, Castana L, Tassi L, et al. Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain. 2007 Feb 1;130(2):561–73. https://doi.org/10.1093/brain/awl322
Carreño M, Garcia‐Alvarez D, Maestro I, Fernández S, Donaire A, Boget T, et al. Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation. Epileptic Disorders. 2010 Jun;12(2):155–8. https://doi.org/10.1684/epd.2010.0307
Referanslar
Pedley TA, Guilleminault C. Episodic nocturnal wanderings responsive to anticonvulsant drug therapy. Annals of Neurology. 1977 Jul;2(1):30–5. https://doi.org/10.1002/ana.410020105
Lugaresi E, Cirignotta F. Hypnogenic Paroxysmal Dystonia: Epileptic Seizure or a New Syndrome? Sleep. 1981 Sep;4(2):129–38. https://doi.org/10.1093/sleep/4.2.129
Lugaresi E, Cirignotta F, Montagna P. Nocturnal paroxysmal dystonia. Journal of Neurology, Neurosurgery & Psychiatry. 1986 Apr 1;49(4):375–80. https://doi.org/10.1136/jnnp.49.4.375
Waterman K, Purves SJ, Kosaka B, Strauss E, Wada JA. An epileptic syndrome caused by mesial frontal lobe seizure foci. Neurology. 1987 Apr;37(4):577–577. https://doi.org/10.1212/WNL.37.4.577
Tinuper P, Bisulli F, Cross JH, Hesdorffer D, Kahane P, Nobili L, et al. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology. 2016 May 10;86(19):1834–42. https://doi.org/10.1212/WNL.0000000000002666
Menghi V, Bisulli F, Tinuper P, Nobili L. Sleep-related hypermotor epilepsy: prevalence, impact and management strategies. NSS. 2018 Oct;Volume 10:317–26. https://doi.org/10.2147/NSS.S152624
Vignatelli L, Bisulli F, Giovannini G, Licchetta L, Naldi I, Mostacci B, et al. Prevalence of Nocturnal Frontal Lobe Epilepsy in the Adult Population of Bologna and Modena, Emilia-Romagna Region, Italy. Sleep. 2015 Mar 1;38(3):479–85. https://doi.org/10.5665/sleep.4514
Derry CP, Duncan S. Sleep and epilepsy. Epilepsy & Behavior. 2013 Mar;26(3):394–404. https://doi.org/10.1016/j.yebeh.2012.10.033
Weinstock A, Giglio P, Kerr SL, Duffner PK, Cohen ME. Hyperkinetic Seizures in Children. J Child Neurol. 2003 Aug;18(8):517–24. https://doi.org/10.1177/08830738030180080801
Provini F. Nocturnal frontal lobe epilepsy: A clinical and polygraphic overview of 100 consecutive cases. Brain. 1999 Jun 1;122(6):1017–31. https://doi.org/10.1093/brain/122.6.1017
Wirrell EC. Epilepsy‐related Injuries. Epilepsia. 2006 Oct;47(s1):79–86. https://doi.org/10.1111/j.1528-1167.2006.00666.x
Thomas RH, King WH, Johnston JA, Smith PEM. Awake seizures after pure sleep-related epilepsy: a systematic review and implications for driving law. Journal of Neurology, Neurosurgery & Psychiatry. 2010 Feb 1;81(2):130–5. https://doi.org/10.1136/jnnp.2009.181438
Tinuper P, Bisulli F. From nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge. Seizure. 2017 Jan;44:87–92. https://doi.org/10.1016/j.seizure.2016.11.023
Licchetta L, Bisulli F. Sleep-related hypermotor epilepsy. 2016; doi: 10.1212/WNL.0000000000002666.
Losurdo A, Proserpio P, Cardinale F, Gozzo F, Tassi L, Mai R, et al. Drug-resistant focal sleep related epilepsy: Results and predictors of surgical outcome. Epilepsy Research. 2014 Jul;108(5):953–62. https://doi.org/10.1016/j.eplepsyres.2014.02.016
Manni R, Terzaghi M, Repetto A. The FLEP scale in diagnosing nocturnal frontal lobe epilepsy, NREM and REM parasomnias: Data from a tertiary sleep and epilepsy unit. Epilepsia. 2008 Sep;49(9):1581–5. https://doi.org/10.1111/j.1528-1167.2008.01602.x
Yoshimura R, Yanagihara N, Terao T, Minami K, Abe K, Izumi F. Inhibition by carbamazepine of various ion channels-mediated catecholamine secretion in cultured bovine adrenal medullary cells. Naunyn-Schmiedeberg’s Arch Pharmacol. 1995 Sep [cited 2023 Dec 30];352(3). https://doi.org/10.1007/BF00168560
Picard F, Bertrand S, Steinlein OK, Bertrand D. Mutated Nicotinic Receptors Responsible for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy are More Sensitive to Carbamazepine. Epilepsia. 1999 Sep;40(9):1198–209. https://doi.org/10.1111/j.1528-1157.1999.tb00848.x
Raju GP, Sarco DP, Poduri A, Riviello JJ, Bergin AMR, Takeoka M. Oxcarbazepine in Children With Nocturnal Frontal-Lobe Epilepsy. Pediatric Neurology. 2007 Nov;37(5):345–9. https://doi.org/10.1016/j.pediatrneurol.2007.06.013
Nobili L, Francione S, Mai R, Cardinale F, Castana L, Tassi L, et al. Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain. 2007 Feb 1;130(2):561–73. https://doi.org/10.1093/brain/awl322
Carreño M, Garcia‐Alvarez D, Maestro I, Fernández S, Donaire A, Boget T, et al. Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation. Epileptic Disorders. 2010 Jun;12(2):155–8. https://doi.org/10.1684/epd.2010.0307
