Literature DB >> 21502606

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence.

K M Klein1, S C Yendle, A S Harvey, J H Antony, G Wallace, T Bienvenu, I E Scheffer.   

Abstract

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Year:  2011        PMID： 21502606     DOI： 10.1212/WNL.0b013e3182166e58

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  14 in total

1.  Genetic testing in epilepsy: what should you be doing?

Authors:  Ingrid E Scheffer
Journal:  Epilepsy Curr       Date:  2011-07       Impact factor: 7.500

Review 2.  Genetic Testing in Pediatric Epilepsy.

Authors:  Tristan T Sands; Hyunmi Choi
Journal:  Curr Neurol Neurosci Rep       Date:  2017-05       Impact factor: 5.081

Review 3.  The genetics of the epilepsies.

Authors:  Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2015-07       Impact factor: 5.081

4.  The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.

Authors:  Stephanie Fehr; Meredith Wilson; Jenny Downs; Simon Williams; Alessandra Murgia; Stefano Sartori; Marilena Vecchi; Gladys Ho; Roberta Polli; Stavroula Psoni; Xinhua Bao; Nick de Klerk; Helen Leonard; John Christodoulou
Journal:  Eur J Hum Genet       Date:  2012-08-08       Impact factor: 4.246

Review 5.  Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.

Authors:  Heather E Olson; Scott T Demarest; Elia M Pestana-Knight; Lindsay C Swanson; Sumaiya Iqbal; Dennis Lal; Helen Leonard; J Helen Cross; Orrin Devinsky; Tim A Benke
Journal:  Pediatr Neurol       Date:  2019-02-23       Impact factor: 3.372

6.  Progressive EEG Changes in CDKL-5 Related Epileptic Encephalopathy.

Authors:  Bhanudeep Singanamalla; Arvind Kumar Singh; Arushi Gahlot Saini
Journal:  Indian J Pediatr       Date:  2020-01-16       Impact factor: 1.967

Review 7.  Severity Assessment in CDKL5 Deficiency Disorder.

Authors:  Scott Demarest; Elia M Pestana-Knight; Heather E Olson; Jenny Downs; Eric D Marsh; Walter E Kaufmann; Carol-Anne Partridge; Helen Leonard; Femida Gwadry-Sridhar; Katheryn Elibri Frame; J Helen Cross; Richard F M Chin; Sumit Parikh; Axel Panzer; Judith Weisenberg; Karen Utley; Amanda Jaksha; Sam Amin; Omar Khwaja; Orrin Devinsky; Jeffery L Neul; Alan K Percy; Tim A Benke
Journal:  Pediatr Neurol       Date:  2019-03-27       Impact factor: 3.372

Review 8.  Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

Authors:  Markus von Deimling; Ingo Helbig; Eric D Marsh
Journal:  Curr Neurol Neurosci Rep       Date:  2017-02       Impact factor: 5.081

9.  CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development.

Authors:  Scott T Demarest; Heather E Olson; Angela Moss; Elia Pestana-Knight; Xiaoming Zhang; Sumit Parikh; Lindsay C Swanson; Katherine D Riley; Grace A Bazin; Katie Angione; Lisa-Marie Niestroj; Dennis Lal; Elizabeth Juarez-Colunga; Tim A Benke
Journal:  Epilepsia       Date:  2019-07-16       Impact factor: 5.864

Review 10.  Genetic forms of epilepsies and other paroxysmal disorders.

Authors:  Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Semin Neurol       Date:  2014-09-05       Impact factor: 3.420
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