Etiyolojiye Spesifik Epilepsi Sendromları
Referanslar
Zuberi SM, Wirrell E, Yozawitz E, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 2022;63(6):1349–1397
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. CDKL5 deficiency disorder: clinical features, diagnosis, and management. Lancet Neurol 2022 ;21(6):563–576.
Olson HE, Daniels CI, Haviland I, et al. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord 2021;13(1):40.
Hong W, Haviland I, Pestana-Knight E, et al. CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment. CNS Drugs 2022;36(6):591–604.
Kolc KL, Sadleir LG, Scheffer IE, et al. A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Mol Psychiatry 2019;24(2):241–251.
Depienne C, Bouteiller D, Keren B, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009 ;5(2)113-119.
Trivisano M, Pietrafusa N, Terracciano A, et al. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study. Epilepsia 2018;59(12):2260–2271.
Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 2019 ;142(8):2303–2318.
Chemaly N, Losito E, Pinard JM, et al. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation. Epileptic Disord 2018 ;20(6):457–467
Breuillard D, Leunen D, Chemaly N, et al. Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations. Epilepsy Behav 2016 60:75–80.
Trivisano M, Specchio N. The role of PCDH19 in refractory status epilepticus. Epilepsy Behav [homepage on the Internet] 2019 [cited 2023 Nov 21];101(Pt B).
Lotte J, Bast T, Borusiak P, et al. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure 2016;35:106–110.
Lange IM de, Rump P, Neuteboom RF, et al. Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics 2017 ;18(3):147–153.
Samanta D. PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review. Pediatr Neurol 2020 ;105:3–9.
Symonds JD, Joss S, Metcalfe KA, et al. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia 2017;58(4):565–575.
Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013 ;368(21):1971–1979.
Luat AF, Juhász C, Loeb JA, et al. Neurological Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs. Pediatr Neurol 2019 ;98:31–38.
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995;10(1):49–58.
Dymerska M, Kirkorian AY, Offermann EA, Lin DD, Comi AM, Cohen BA. Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. J Pediatr 2017 ;188:205-209.e1.
Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988;3(3):181–184.
Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, et al. A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol 2015 ;72(3):473–480.
Pearl PL, Pinto A, Sahin M. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res [homepage on the Internet] 2016 ;5(2).234-2241.
Wu J, Tarabishy B, Hu J, et al. Cortical calcification in Sturge-Weber Syndrome on MRI-SWI: relation to brain perfusion status and seizure severity. J Magn Reson Imaging 2011 ;34(4):791–798.
Simonati A, Colamaria V, Bricolo A, Bernardina BD, Rizzuto N. Microgyria associated with Sturge-Weber angiomatosis. Childs Nerv Syst 1994;10(6):392–395.
Tekin H, Gökben S, Yılmaz S, … HT-JP, 2018 undefined. Sturge-Weber Syndrome Type III. cms.galenos.com.tr [homepage on the Internet] 2018 https://cms.galenos.com.tr/Uploads/Article_19000/JPR-5-103-En.pdf
Kossoff EH, Ferenc L, Comi AM. An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. Epilepsia 2009 ;50(9):2154–2157.
Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995 ;57(1):35–45.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J. Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci 2008 ;35(3):301–307.
Bosnyák E, Behen ME, Guy WC, Asano E, Chugani HT, Juhász C. Predictors of Cognitive Functions in Children With Sturge-Weber Syndrome: A Longitudinal Study. Pediatr Neurol 2016 ;61:38–45
Day AM, McCulloch CE, Hammill AM, et al. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. Pediatr Neurol 2019 ;96:30–36
Pearl PL, Pinto A, Sahin M. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res 2016 ;5
Pinto AL, Chen L, Friedman R, et al. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol 2016 ;58:25–30
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995 ;10(1):49–58
Kossoff EH, Bachur CD, Quain AM, Ewen JB, Comi AM. EEG evolution in Sturge-Weber syndrome. Epilepsy Res 2014 ;108(4):816–819
Bar C, Kaminska A, Nabbout R. Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study. Epilepsy Res 2018 ;143:75–78.
la Torre AJ De, Luat AF, Juhász C, et al. A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. Pediatr Neurol 2018;84:11–20.
Kaplan EH, Kossoff EH, Bachur CD, et al. Anticonvulsant Efficacy in Sturge-Weber Syndrome. Pediatr Neurol 2016 ;58:31–36
Comi A. Current Therapeutic Options in Sturge-Weber Syndrome. Semin Pediatr Neurol 2015 ;22(4):295–301
Kaplan EH, Offermann EA, Sievers JW, Comi AM. Cannabidiol Treatment for Refractory Seizures in Sturge-Weber Syndrome. Pediatr Neuruol 2017 ;71:18-23.e2.
Shim KW, Chang JH, Park YG, Kim HD, Choi JU, Kim DS. Treatment modality for intractable epilepsy in hypothalamic hamartomatous lesions. Neurosurgery 2008 ;62(4):847–856.
Quiske A, Frings L, Wagner K, Unterrainer J, Schulze-Bonhage A. Cognitive functions in juvenile and adult patients with gelastic epilepsy due to hypothalamic hamartoma. Epilepsia 2006 ;47(1):153–158
Shahar E, Kramer U, Mahajnah M, et al. Pediatric-onset gelastic seizures: clinical data and outcome. Pediatr Neurol 2007 ;37(1):29–34.
Harrison VS, Oatman O, Kerrigan JF. Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity. Epilepsia 2017 ;58 Suppl 2(Suppl 2):50–59.
Brandberg G, Raininko R, Eeg-Olofsson O. Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents. European Journal of Paediatric Neurology 2004 ;8(1):35–44.
Joshi C, … AW-C of EC and U, 2019 undefined. Hypothalamic Hamartoma and Gelastic Epilepsy. cambridge.orgC Joshi, A WilfongThe Causes of Epilepsy: Common and Uncommon Causes in Adults and, 2019•cambridge.581-584
Frattali CM, Liow K, Craig GH, et al. Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma. Neurology 2001;57(1):43–46.
Kerrigan JF, Ng YT, Prenger E, Krishnamoorthy KS, Wang NC, Rekate HL. Hypothalamic hamartoma and infantile spasms. Epilepsia 2007 ;48(1):89–95.
Nguyen D, Singh S, Zaatreh M, et al. Hypothalamic hamartomas: Seven cases and review of the literature. Epilepsy and Behavior 2003 ;4(3):246–258.
Parvizi J, Le S, Foster BL, et al. Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients. Brain 2011;134(Pt 10):2960–2968.
Hildebrand MS, Griffin NG, Damiano JA, et al. Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. Am J Hum Genet 2016 ;99(2):423–429.
Veneruzzo GM, Loos MA, Armeno M, Alonso CN, Caraballo RH. Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment. Arch Argent Pediatr 2023 ;121(1)
Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, Vivo DC De. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia 2012;53(9):1503–1510.
Klepper J, Akman C, Armeno M, et al. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open 2020 ;5(3):354–365.
Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010 ;133(Pt 3):655–670
Pena IA, MacKenzie A, Karnebeek CDM Van. Current knowledge for pyridoxine-dependent epilepsy: a 2016 update. Expert Rev Endocrinol Metab 2017 ;12(1):5–20.
Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006 ;12(3):307–309
Karnebeek CDM Van, Tiebout SA, Niermeijer J, et al. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol 2016 ;59:6–12.
Stockler S, Plecko B, Gospe SM, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 2011 ;104(1–2):48–60
Toldo I, Bonardi CM, Bettella E, et al. Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. Eur J Paediatr Neurol 2018 ;22(6):1042–1053
Allen NM, Mannion M, Conroy J, et al. The variable phenotypes of KCNQ-related epilepsy. Epilepsia 2014 ;55(9):e99–e105
Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia 2019 ;60(9):1870–1880
Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neuro2012 ;71(1):15–25
Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S. CDKL5 deficiency disorder: clinical features, diagnosis, and management. Lancet Neurol 2022 ;21(6):563–576.
Olson HE, Daniels CI, Haviland I, et al. Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder. J Neurodev Disord 2021;13(1):40.
Hong W, Haviland I, Pestana-Knight E, et al. CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment. CNS Drugs 2022;36(6):591–604.
Kolc KL, Sadleir LG, Scheffer IE, et al. A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity. Mol Psychiatry 2019;24(2):241–251.
Depienne C, Bouteiller D, Keren B, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet 2009 ;5(2)113-119.
Trivisano M, Pietrafusa N, Terracciano A, et al. Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study. Epilepsia 2018;59(12):2260–2271.
Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 2019 ;142(8):2303–2318.
Chemaly N, Losito E, Pinard JM, et al. Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation. Epileptic Disord 2018 ;20(6):457–467
Breuillard D, Leunen D, Chemaly N, et al. Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations. Epilepsy Behav 2016 60:75–80.
Trivisano M, Specchio N. The role of PCDH19 in refractory status epilepticus. Epilepsy Behav [homepage on the Internet] 2019 [cited 2023 Nov 21];101(Pt B).
Lotte J, Bast T, Borusiak P, et al. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure 2016;35:106–110.
Lange IM de, Rump P, Neuteboom RF, et al. Male patients affected by mosaic PCDH19 mutations: five new cases. Neurogenetics 2017 ;18(3):147–153.
Samanta D. PCDH19-Related Epilepsy Syndrome: A Comprehensive Clinical Review. Pediatr Neurol 2020 ;105:3–9.
Symonds JD, Joss S, Metcalfe KA, et al. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia 2017;58(4):565–575.
Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013 ;368(21):1971–1979.
Luat AF, Juhász C, Loeb JA, et al. Neurological Complications of Sturge-Weber Syndrome: Current Status and Unmet Needs. Pediatr Neurol 2019 ;98:31–38.
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995;10(1):49–58.
Dymerska M, Kirkorian AY, Offermann EA, Lin DD, Comi AM, Cohen BA. Size of Facial Port-Wine Birthmark May Predict Neurologic Outcome in Sturge-Weber Syndrome. J Pediatr 2017 ;188:205-209.e1.
Bebin EM, Gomez MR. Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement. J Child Neurol 1988;3(3):181–184.
Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, et al. A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol 2015 ;72(3):473–480.
Pearl PL, Pinto A, Sahin M. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res [homepage on the Internet] 2016 ;5(2).234-2241.
Wu J, Tarabishy B, Hu J, et al. Cortical calcification in Sturge-Weber Syndrome on MRI-SWI: relation to brain perfusion status and seizure severity. J Magn Reson Imaging 2011 ;34(4):791–798.
Simonati A, Colamaria V, Bricolo A, Bernardina BD, Rizzuto N. Microgyria associated with Sturge-Weber angiomatosis. Childs Nerv Syst 1994;10(6):392–395.
Tekin H, Gökben S, Yılmaz S, … HT-JP, 2018 undefined. Sturge-Weber Syndrome Type III. cms.galenos.com.tr [homepage on the Internet] 2018 https://cms.galenos.com.tr/Uploads/Article_19000/JPR-5-103-En.pdf
Kossoff EH, Ferenc L, Comi AM. An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge-Weber syndrome. Epilepsia 2009 ;50(9):2154–2157.
Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet 1995 ;57(1):35–45.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viaño J. Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci 2008 ;35(3):301–307.
Bosnyák E, Behen ME, Guy WC, Asano E, Chugani HT, Juhász C. Predictors of Cognitive Functions in Children With Sturge-Weber Syndrome: A Longitudinal Study. Pediatr Neurol 2016 ;61:38–45
Day AM, McCulloch CE, Hammill AM, et al. Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome. Pediatr Neurol 2019 ;96:30–36
Pearl PL, Pinto A, Sahin M. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res 2016 ;5
Pinto AL, Chen L, Friedman R, et al. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol 2016 ;58:25–30
Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 1995 ;10(1):49–58
Kossoff EH, Bachur CD, Quain AM, Ewen JB, Comi AM. EEG evolution in Sturge-Weber syndrome. Epilepsy Res 2014 ;108(4):816–819
Bar C, Kaminska A, Nabbout R. Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study. Epilepsy Res 2018 ;143:75–78.
la Torre AJ De, Luat AF, Juhász C, et al. A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. Pediatr Neurol 2018;84:11–20.
Kaplan EH, Kossoff EH, Bachur CD, et al. Anticonvulsant Efficacy in Sturge-Weber Syndrome. Pediatr Neurol 2016 ;58:31–36
Comi A. Current Therapeutic Options in Sturge-Weber Syndrome. Semin Pediatr Neurol 2015 ;22(4):295–301
Kaplan EH, Offermann EA, Sievers JW, Comi AM. Cannabidiol Treatment for Refractory Seizures in Sturge-Weber Syndrome. Pediatr Neuruol 2017 ;71:18-23.e2.
Shim KW, Chang JH, Park YG, Kim HD, Choi JU, Kim DS. Treatment modality for intractable epilepsy in hypothalamic hamartomatous lesions. Neurosurgery 2008 ;62(4):847–856.
Quiske A, Frings L, Wagner K, Unterrainer J, Schulze-Bonhage A. Cognitive functions in juvenile and adult patients with gelastic epilepsy due to hypothalamic hamartoma. Epilepsia 2006 ;47(1):153–158
Shahar E, Kramer U, Mahajnah M, et al. Pediatric-onset gelastic seizures: clinical data and outcome. Pediatr Neurol 2007 ;37(1):29–34.
Harrison VS, Oatman O, Kerrigan JF. Hypothalamic hamartoma with epilepsy: Review of endocrine comorbidity. Epilepsia 2017 ;58 Suppl 2(Suppl 2):50–59.
Brandberg G, Raininko R, Eeg-Olofsson O. Hypothalamic hamartoma with gelastic seizures in Swedish children and adolescents. European Journal of Paediatric Neurology 2004 ;8(1):35–44.
Joshi C, … AW-C of EC and U, 2019 undefined. Hypothalamic Hamartoma and Gelastic Epilepsy. cambridge.orgC Joshi, A WilfongThe Causes of Epilepsy: Common and Uncommon Causes in Adults and, 2019•cambridge.581-584
Frattali CM, Liow K, Craig GH, et al. Cognitive deficits in children with gelastic seizures and hypothalamic hamartoma. Neurology 2001;57(1):43–46.
Kerrigan JF, Ng YT, Prenger E, Krishnamoorthy KS, Wang NC, Rekate HL. Hypothalamic hamartoma and infantile spasms. Epilepsia 2007 ;48(1):89–95.
Nguyen D, Singh S, Zaatreh M, et al. Hypothalamic hamartomas: Seven cases and review of the literature. Epilepsy and Behavior 2003 ;4(3):246–258.
Parvizi J, Le S, Foster BL, et al. Gelastic epilepsy and hypothalamic hamartomas: neuroanatomical analysis of brain lesions in 100 patients. Brain 2011;134(Pt 10):2960–2968.
Hildebrand MS, Griffin NG, Damiano JA, et al. Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. Am J Hum Genet 2016 ;99(2):423–429.
Veneruzzo GM, Loos MA, Armeno M, Alonso CN, Caraballo RH. Glucose transporter type 1 deficiency syndrome: clinical aspects, diagnosis, and treatment. Arch Argent Pediatr 2023 ;121(1)
Pong AW, Geary BR, Engelstad KM, Natarajan A, Yang H, Vivo DC De. Glucose transporter type I deficiency syndrome: epilepsy phenotypes and outcomes. Epilepsia 2012;53(9):1503–1510.
Klepper J, Akman C, Armeno M, et al. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open 2020 ;5(3):354–365.
Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010 ;133(Pt 3):655–670
Pena IA, MacKenzie A, Karnebeek CDM Van. Current knowledge for pyridoxine-dependent epilepsy: a 2016 update. Expert Rev Endocrinol Metab 2017 ;12(1):5–20.
Mills PB, Struys E, Jakobs C, et al. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006 ;12(3):307–309
Karnebeek CDM Van, Tiebout SA, Niermeijer J, et al. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol 2016 ;59:6–12.
Stockler S, Plecko B, Gospe SM, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 2011 ;104(1–2):48–60
Toldo I, Bonardi CM, Bettella E, et al. Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review. Eur J Paediatr Neurol 2018 ;22(6):1042–1053
Allen NM, Mannion M, Conroy J, et al. The variable phenotypes of KCNQ-related epilepsy. Epilepsia 2014 ;55(9):e99–e105
Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S. Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. Epilepsia 2019 ;60(9):1870–1880
Weckhuysen S, Mandelstam S, Suls A, et al. KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Ann Neuro2012 ;71(1):15–25
Sayfalar
179-198
Gelecek
21 Eylül 2024
Telif Hakkı (c) 2024 Akademisyen Yayınevi Kitap DOI Portalı
Lisans
LisansNasıl Atıf Yapılır
1.
Gazeteci Tekin H, Karaoğlu P, Tosun A. Etiyolojiye Spesifik Epilepsi Sendromları. Içinde: Canpolat M, editör. Canpolat, Temel Pediatrik Epilepsi [Internet]. Türkiye: Akademisyen Yayınevi Kitap DOI Portalı; 2024 [a.yer 13 Temmuz 2026]. ss. 179-98. Erişim adresi: https://mail.omp35.books.akademisyen.net/index.php/akya/catalog/book/3122/chapter/12201