Literature DB >> 25391480

Catastrophic childhood epilepsy: a recent convergence of basic and clinical neuroscience.

Alla Katsnelson1, Gyorgy Buzsáki2, John W Swann3.   

Abstract

Advances in understanding the genetics and underlying pathology of the catastrophic childhood epilepsies are pointing toward treatments.
Copyright © 2014, American Association for the Advancement of Science.

Entities:  

Mesh：

Year:  2014        PMID： 25391480     DOI： 10.1126/scitranslmed.3010531

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN： 1946-6234            Impact factor:   17.956


  6 in total

1.  De novo GABRG2 mutations associated with epileptic encephalopathies.

Authors:  Dingding Shen; Ciria C Hernandez; Wangzhen Shen; Ningning Hu; Annapurna Poduri; Beth Shiedley; Alex Rotenberg; Alexandre N Datta; Steffen Leiz; Steffi Patzer; Rainer Boor; Kerri Ramsey; Ethan Goldberg; Ingo Helbig; Xilma R Ortiz-Gonzalez; Johannes R Lemke; Eric D Marsh; Robert L Macdonald
Journal:  Brain       Date:  2016-11-17       Impact factor: 13.501

Review 2.  Why Are Children With Epileptic Encephalopathies Encephalopathic?

Authors:  Jeremy M Barry; Gregory L Holmes
Journal:  J Child Neurol       Date:  2016-08-11       Impact factor: 1.987

Review 3.  Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms.

Authors:  Remi Janicot; Li-Rong Shao; Carl E Stafstrom
Journal:  Children (Basel)       Date:  2020-01-06

4.  Phenotypic analysis of catastrophic childhood epilepsy genes.

Authors:  Aliesha Griffin; Colleen Carpenter; Jing Liu; Rosalia Paterno; Brian Grone; Kyla Hamling; Maia Moog; Matthew T Dinday; Francisco Figueroa; Mana Anvar; Chinwendu Ononuju; Tony Qu; Scott C Baraban
Journal:  Commun Biol       Date:  2021-06-03

5.  Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors.

Authors:  Ciria C Hernandez; XiaoJuan Tian; Ningning Hu; Wangzhen Shen; Mackenzie A Catron; Ying Yang; Jiaoyang Chen; Yuwu Jiang; Yuehua Zhang; Robert L Macdonald
Journal:  Brain Commun       Date:  2021-03-11

6.  The Neuroactive Steroid Pregnanolone Glutamate: Anticonvulsant Effect, Metabolites and Its Effect on Neurosteroid Levels in Developing Rat Brains.

Authors:  Eva Kudova; Pavel Mares; Martin Hill; Katerina Vondrakova; Grygoriy Tsenov; Hana Chodounska; Hana Kubova; Karel Vales
Journal:  Pharmaceuticals (Basel)       Date:  2021-12-30
  6 in total

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