Literature DB >> 34176003

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

Jin-Mei Lu1, Jian-Fang Zhang1, Cai-Hong Ji1, Jing Hu1, Kang Wang2.   

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Year:  2021        PMID： 34176003     DOI： 10.1007/s10072-021-05388-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  6 in total

Review 1.  Subcellular localization of K+ channels in mammalian brain neurons: remarkable precision in the midst of extraordinary complexity.

Authors:  James S Trimmer
Journal:  Neuron       Date:  2015-01-21       Impact factor: 17.173

2.  [Developmental anomalies of the retina and vitreous body (dysplasia retinae, plica retinae congenita, corpus vitreum hyperplasticum persistens)].

Authors:  S Mondelski; K Pecoldowa; M Müllauerowa
Journal:  Klin Oczna       Date:  1969

Review 3.  Epilepsy-associated genes.

Authors:  Jie Wang; Zhi-Jian Lin; Liu Liu; Hai-Qing Xu; Yi-Wu Shi; Yong-Hong Yi; Na He; Wei-Ping Liao
Journal:  Seizure       Date:  2016-12-06       Impact factor: 3.184

Review 4.  Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Authors:  Claire Bar; Giulia Barcia; Mélanie Jennesson; Gwenaël Le Guyader; Amy Schneider; Cyril Mignot; Gaetan Lesca; Delphine Breuillard; Martino Montomoli; Boris Keren; Diane Doummar; Thierry Billette de Villemeur; Alexandra Afenjar; Isabelle Marey; Marion Gerard; Hervé Isnard; Alice Poisson; Sophie Dupont; Patrick Berquin; Pierre Meyer; David Genevieve; Anne De Saint Martin; Salima El Chehadeh; Jamel Chelly; Agnès Guët; Emmanuel Scalais; Nathalie Dorison; Candace T Myers; Heather C Mefford; Katherine B Howell; Carla Marini; Jeremy L Freeman; Anca Nica; Gaetano Terrone; Tayeb Sekhara; Anne-Sophie Lebre; Sylvie Odent; Lynette G Sadleir; Arnold Munnich; Renzo Guerrini; Ingrid E Scheffer; Edor Kabashi; Rima Nabbout
Journal:  Hum Mutat       Date:  2019-10-04       Impact factor: 4.878

5.  Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

Authors:  Claire Bar; Mathieu Kuchenbuch; Giulia Barcia; Amy Schneider; Mélanie Jennesson; Gwenaël Le Guyader; Gaetan Lesca; Cyril Mignot; Martino Montomoli; Elena Parrini; Hervé Isnard; Anne Rolland; Boris Keren; Alexandra Afenjar; Nathalie Dorison; Lynette G Sadleir; Delphine Breuillard; Raphael Levy; Marlène Rio; Sophie Dupont; Susanna Negrin; Alberto Danieli; Emmanuel Scalais; Anne De Saint Martin; Salima El Chehadeh; Jamel Chelly; Alice Poisson; Anne-Sophie Lebre; Anca Nica; Sylvie Odent; Tayeb Sekhara; Vesna Brankovic; Alice Goldenberg; Pascal Vrielynck; Damien Lederer; Hélène Maurey; Gaetano Terrone; Claude Besmond; Laurence Hubert; Patrick Berquin; Thierry Billette de Villemeur; Bertrand Isidor; Jeremy L Freeman; Heather C Mefford; Candace T Myers; Katherine B Howell; Andrés Rodríguez-Sacristán Cascajo; Pierre Meyer; David Genevieve; Agnès Guët; Diane Doummar; Julien Durigneux; Marieke F van Dooren; Marie Claire Y de Wit; Marion Gerard; Isabelle Marey; Arnold Munnich; Renzo Guerrini; Ingrid E Scheffer; Edor Kabashi; Rima Nabbout
Journal:  Epilepsia       Date:  2020-09-21       Impact factor: 5.864

Review 6.  Genetics of epilepsy syndromes starting in the first year of life.

Authors:  Liesbet Deprez; An Jansen; Peter De Jonghe
Journal:  Neurology       Date:  2009-01-20       Impact factor: 9.910
  6 in total
  1 in total

1.  A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.

Authors:  Takuya Hiraide; Tenpei Akita; Kenji Uematsu; Sachiko Miyamoto; Mitsuko Nakashima; Masayuki Sasaki; Atsuo Fukuda; Mitsuhiro Kato; Hirotomo Saitsu
Journal:  J Hum Genet       Date:  2022-10-18       Impact factor: 3.755
  1 in total

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