Miyoklonik-Atonik Epilepsi (Doose Sendromu)

Kelley SA, Kossoff EH. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol. 2010 ve 93., 52 : 988. DOI: 10.1111/j.1469-8749.2010.03744.x.

NICKELS, Katherine, et al. Epilepsy with myoclonic‐atonic seizures (Doose syndrome): clarification of diagnosis and treatment options through a large retrospective multicenter cohort. Epilepsia, 2021, 62.1: 120-127.

Doose H, Gerken H, Leonhardt R, et al. Centrencephalic myoclonic–astatic petit mal. Clinical and genetic investigation, Neuropadiatrie, 2 (1970), pp. 59-78. DOI: 10.1055/s-0028-1091841.

Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005–2009. Epilepsia 2010 ve 85., 51: 676–85. DOI: 10.1111/j.1528-1167.2010.02522.x.

Tang S, Pal DK. Dissecting the genetic basis of myoclonic-astatic epilepsy. Epilepsia. 2012; 53: 1303–13.

Doose H. Myoclonic–astatic epilepsy, Epilepsy Res Suppl, 6 (1992), pp. 163-168.

M. Trivisano, N. Specchio, S. Cappelletti, et al., Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution, Epilepsy Res. 97 (1e2) (2011) 133e141.

R.H. Caraballo, N. Chamorro, F. Darra, S. Fortini, H. Arroyo Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients Pediatr. Neurol., 48 (5) (2013), pp. 355-362.

Hirokazu Oguni. Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria. Eur J Paediatr Neurol. 2022 Jan:36:37-50. doi: 10.1016/j.ejpn.2021.11.009.Epub 2021 Dec 1.

H. Oguni, K. Hayashi, K. Imai, et al., Idiopathic myoclonic-astatic epilepsy of early childhood–nosology based on electrophysiologic and long-term followup study of patients, Adv. Neurol. 95 (2005) 157e174.

E. Stenger, M. Schaeffer, C. Cances, et al., Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: a French multicenter retrospective study, Epilepsy Res. 131 (2017) 64e69.

Oguni H, Fukuyama Y, Tanaka T, et al. Myoclonic–astatic epilepsy of early childhood – clinical and EEG analysis of myoclonic–astatic seizures, and discussions of the nosology of the syndrome. Brain Dev 2001 ve 64., 23: 757–64. DOI: 10.1016/s0387-7604(01)00281-9.

H. Oguni, S. Ito, A. Nishikawa, Y. Otani, S. Nagata, Morphometric analysis of spike-wave complexes (SWCs) causing myoclonic seizures in children with idiopathic myoclonic epilepsies - a positive SWC component correlates with myoclonic intensity, Brain Dev. 43 (7) (2021) 775e782.

Camfield P, Camfield C. Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+). Epileptic Disord. 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466.

S. Tang, L. Addis, A. Smith, et al., Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures, Epilepsia 61 (5) (2020) 995e1007.

Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M; EuroEPINOMICS-RES Consortium; Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29. PMID: 32469098.

BONANNI, Paolo; PARMEGGIANI, Lucio; GUERRINI, Renzo. Different neurophysiologic patterns of myoclonus characterize Lennox–Gastaut syndrome and myoclonic astatic epilepsy. Epilepsia, 2002, 43.6: 609-615.

JOSHI C, Nickels K, Demarest S, et al. Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/Doose syndrome. Seizure, 2021, 85: 12-18. DOI: 10.1016/j.seizure.2020.11.017.

Nickels K, Thibert R, Rau S, Demarest S, Wirrell E, Kossoff EH, et al. How to diagnose and treat epilepsy with myoclonic-atonic groups (Doose syndrome)? Pediatric Epilepsy Research Consortium research results. Epilepsy Res. 2018; 144 : 14-9.

Shellhaas RA, Berg AT, Grinspan ZM, Wusthoff CJ, Millichap JJ, Loddenkemper T, et al. Initial treatment for nonsyndromic early-life epilepsy: an unexpected consensus. Pediatr Neurol. 2017; 75: 73–9.

Appleton RE, Freeman A, Cross JH. Diagnosis and management of the epilepsies in children: a summary of the partial update of the 2012 NICE epilepsy guideline. Arch Dis Child. 2012; 97: 1073–6.

Kilaru S, Bergqvist AGC. Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. Epilepsy. 2007; 48:1703-7.

Kim JA, Yoon JR, Lee EJ, Lee JS, Kim JT, Kim HD, et al. Efficacy of classical ketogenic and modified Atkins diets in refractory childhood epilepsy. Epilepsy. 2016; 57:51-8.

Kossoff EH, Zupec-Kania BA, Amark PE, et al. Optimalclinical management of children receiving the ketogenic diet:recommendations of the international ketogenic diet studygroup.Epilepsia2009 ve 50:304–17. DOI: 10.1111/j.1528-1167.2008.01765.x.

Buoni S, Mariottini A, Pieri S, et al. Vagus nerve stimulationfor drug-resistant epilepsy in children and young adults.Brain Dev2004 ve 26:158–63. DOI: 10.1016/S0387-7604(03)00120-7.

Oguni H, Tanaka T, Hayashi K, et al. Treatment and long-term prognosis of myoclonic–astatic epilepsy of early childhood. Neuropediatrics 2002 ve 32., 33: 122–32. DOI: 10.1055/s-2002-33675.

Kelley SA, Kossoff EH. Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress. Dev Med Child Neurol. 2010 ve 93., 52 : 988. DOI: 10.1111/j.1469-8749.2010.03744.x.

NICKELS, Katherine, et al. Epilepsy with myoclonic‐atonic seizures (Doose syndrome): clarification of diagnosis and treatment options through a large retrospective multicenter cohort. Epilepsia, 2021, 62.1: 120-127.

Doose H, Gerken H, Leonhardt R, et al. Centrencephalic myoclonic–astatic petit mal. Clinical and genetic investigation, Neuropadiatrie, 2 (1970), pp. 59-78. DOI: 10.1055/s-0028-1091841.

Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE commission on classification and terminology, 2005–2009. Epilepsia 2010 ve 85., 51: 676–85. DOI: 10.1111/j.1528-1167.2010.02522.x.

Tang S, Pal DK. Dissecting the genetic basis of myoclonic-astatic epilepsy. Epilepsia. 2012; 53: 1303–13.

Doose H. Myoclonic–astatic epilepsy, Epilepsy Res Suppl, 6 (1992), pp. 163-168.

M. Trivisano, N. Specchio, S. Cappelletti, et al., Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution, Epilepsy Res. 97 (1e2) (2011) 133e141.

R.H. Caraballo, N. Chamorro, F. Darra, S. Fortini, H. Arroyo Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients Pediatr. Neurol., 48 (5) (2013), pp. 355-362.

Hirokazu Oguni. Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome: Modification of the diagnostic criteria. Eur J Paediatr Neurol. 2022 Jan:36:37-50. doi: 10.1016/j.ejpn.2021.11.009.Epub 2021 Dec 1.

H. Oguni, K. Hayashi, K. Imai, et al., Idiopathic myoclonic-astatic epilepsy of early childhood–nosology based on electrophysiologic and long-term followup study of patients, Adv. Neurol. 95 (2005) 157e174.

E. Stenger, M. Schaeffer, C. Cances, et al., Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: a French multicenter retrospective study, Epilepsy Res. 131 (2017) 64e69.

Oguni H, Fukuyama Y, Tanaka T, et al. Myoclonic–astatic epilepsy of early childhood – clinical and EEG analysis of myoclonic–astatic seizures, and discussions of the nosology of the syndrome. Brain Dev 2001 ve 64., 23: 757–64. DOI: 10.1016/s0387-7604(01)00281-9.

H. Oguni, S. Ito, A. Nishikawa, Y. Otani, S. Nagata, Morphometric analysis of spike-wave complexes (SWCs) causing myoclonic seizures in children with idiopathic myoclonic epilepsies - a positive SWC component correlates with myoclonic intensity, Brain Dev. 43 (7) (2021) 775e782.

Camfield P, Camfield C. Febrile seizures and genetic epilepsy with febrile seizures plus (GEFS+). Epileptic Disord. 2015 Jun;17(2):124-33. doi: 10.1684/epd.2015.0737. PMID: 25917466.

S. Tang, L. Addis, A. Smith, et al., Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures, Epilepsia 61 (5) (2020) 995e1007.

Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M; EuroEPINOMICS-RES Consortium; Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK. Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures. Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29. PMID: 32469098.

BONANNI, Paolo; PARMEGGIANI, Lucio; GUERRINI, Renzo. Different neurophysiologic patterns of myoclonus characterize Lennox–Gastaut syndrome and myoclonic astatic epilepsy. Epilepsia, 2002, 43.6: 609-615.

JOSHI C, Nickels K, Demarest S, et al. Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/Doose syndrome. Seizure, 2021, 85: 12-18. DOI: 10.1016/j.seizure.2020.11.017.

Nickels K, Thibert R, Rau S, Demarest S, Wirrell E, Kossoff EH, et al. How to diagnose and treat epilepsy with myoclonic-atonic groups (Doose syndrome)? Pediatric Epilepsy Research Consortium research results. Epilepsy Res. 2018; 144 : 14-9.

Shellhaas RA, Berg AT, Grinspan ZM, Wusthoff CJ, Millichap JJ, Loddenkemper T, et al. Initial treatment for nonsyndromic early-life epilepsy: an unexpected consensus. Pediatr Neurol. 2017; 75: 73–9.

Appleton RE, Freeman A, Cross JH. Diagnosis and management of the epilepsies in children: a summary of the partial update of the 2012 NICE epilepsy guideline. Arch Dis Child. 2012; 97: 1073–6.

Kilaru S, Bergqvist AGC. Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. Epilepsy. 2007; 48:1703-7.

Kim JA, Yoon JR, Lee EJ, Lee JS, Kim JT, Kim HD, et al. Efficacy of classical ketogenic and modified Atkins diets in refractory childhood epilepsy. Epilepsy. 2016; 57:51-8.

Kossoff EH, Zupec-Kania BA, Amark PE, et al. Optimalclinical management of children receiving the ketogenic diet:recommendations of the international ketogenic diet studygroup.Epilepsia2009 ve 50:304–17. DOI: 10.1111/j.1528-1167.2008.01765.x.

Buoni S, Mariottini A, Pieri S, et al. Vagus nerve stimulationfor drug-resistant epilepsy in children and young adults.Brain Dev2004 ve 26:158–63. DOI: 10.1016/S0387-7604(03)00120-7.

Oguni H, Tanaka T, Hayashi K, et al. Treatment and long-term prognosis of myoclonic–astatic epilepsy of early childhood. Neuropediatrics 2002 ve 32., 33: 122–32. DOI: 10.1055/s-2002-33675.