Etiyolojiye Spesifik Epilepsi Sendromları
Özet
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
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
