Mild phenotype in a patient with developmental and epileptic encephalopathy carrying a novel de novo KCNB1 variant

go back to reference Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshé SL, Nordli DR, Perucca E, Tomson T, Wiebe S, Zhang YH, Zuberi SM (2017) ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58(4):512–521. https://doi.org/10.1111/epi.13709CrossRefPubMedPubMedCentral Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, Hirsch E, Jain S, Mathern GW, Moshé SL, Nordli DR, Perucca E, Tomson T, Wiebe S, Zhang YH, Zuberi SM (2017) ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 58(4):512–521. https://​doi.​org/​10.​1111/​epi.​13709CrossRefPubMedPubMedCentral

go back to reference Deprez L, Jansen A, De Jonghe P (2009) Genetics of epilepsy syndromes starting in the first year of life. Neurology 72(3):273–281. https://doi.org/10.1212/01.wnl.0000339494.76377.d6CrossRefPubMed Deprez L, Jansen A, De Jonghe P (2009) Genetics of epilepsy syndromes starting in the first year of life. Neurology 72(3):273–281. https://​doi.​org/​10.​1212/​01.​wnl.​0000339494.​76377.​d6CrossRefPubMed

go back to reference Wang J, Lin ZJ, Liu L, Xu HQ, Shi YW, Yi YH, He N, Liao WP (2017) Epilepsy-associated genes. Seizure 44:11–20. https://doi.org/10.1016/j.seizure.2016.11.030CrossRefPubMed Wang J, Lin ZJ, Liu L, Xu HQ, Shi YW, Yi YH, He N, Liao WP (2017) Epilepsy-associated genes. Seizure 44:11–20. https://​doi.​org/​10.​1016/​j.​seizure.​2016.​11.​030CrossRefPubMed

go back to reference Trimmer JS (2015) Subcellular localization of K+ channels in mammalian brain neurons: remarkable precision in the midst of extraordinary complexity. Neuron 85(2):238–256. https://doi.org/10.1016/j.neuron.2014.12.042CrossRefPubMedPubMedCentral Trimmer JS (2015) Subcellular localization of K+ channels in mammalian brain neurons: remarkable precision in the midst of extraordinary complexity. Neuron 85(2):238–256. https://​doi.​org/​10.​1016/​j.​neuron.​2014.​12.​042CrossRefPubMedPubMedCentral

go back to reference Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint MA, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R (2020) Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat 41(1):69–80. https://doi.org/10.1002/humu.23915CrossRefPubMed Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint MA, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R (2020) Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature. Hum Mutat 41(1):69–80. https://​doi.​org/​10.​1002/​humu.​23915CrossRefPubMed

go back to reference Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, RodrÃ-guez-SacristánCascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R (2020) Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. https://doi.org/10.1111/epi.16679CrossRefPubMed Bar C, Kuchenbuch M, Barcia G, Schneider A, Jennesson M, Le Guyader G, Lesca G, Mignot C, Montomoli M, Parrini E, Isnard H, Rolland A, Keren B, Afenjar A, Dorison N, Sadleir LG, Breuillard D, Levy R, Rio M, Dupont S, Negrin S, Danieli A, Scalais E, De Saint Martin A, El Chehadeh S, Chelly J, Poisson A, Lebre AS, Nica A, Odent S, Sekhara T, Brankovic V, Goldenberg A, Vrielynck P, Lederer D, Maurey H, Terrone G, Besmond C, Hubert L, Berquin P, Billette de Villemeur T, Isidor B, Freeman JL, Mefford HC, Myers CT, Howell KB, RodrÃ-guez-SacristánCascajo A, Meyer P, Genevieve D, Guët A, Doummar D, Durigneux J, van Dooren MF, de Wit MCY, Gerard M, Marey I, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R (2020) Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome. Epilepsia. https://​doi.​org/​10.​1111/​epi.​16679CrossRefPubMed

go back to reference Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, VirdÃ2 S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R (2017) Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. Neurol Genet 3(6):e206. https://doi.org/10.1212/nxg.0000000000000206 Marini C, Romoli M, Parrini E, Costa C, Mei D, Mari F, Parmeggiani L, Procopio E, Metitieri T, Cellini E, VirdÃ2 S, De Vita D, Gentile M, Prontera P, Calabresi P, Guerrini R (2017) Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. Neurol Genet 3(6):e206. https://​doi.​org/​10.​1212/​nxg.​0000000000000206​