Literature DB >> 20602487

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Julien Masliah-Plachon1, Stéphane Auvin, Juliette Nectoux, Yann Fichou, Jamel Chelly, Thierry Bienvenu.   

Abstract

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Year:  2010        PMID： 20602487     DOI： 10.1002/ajmg.a.33037

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  16 in total

1.  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 2.  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

3.  CDKL5-Related Disorders: From Clinical Description to Molecular Genetics.

Authors:  N Bahi-Buisson; T Bienvenu
Journal:  Mol Syndromol       Date:  2011-09-13

4.  International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.

Authors:  Sam Amin; Marie Monaghan; Angel Aledo-Serrano; Nadia Bahi-Buisson; Richard F Chin; Angus J Clarke; J Helen Cross; Scott Demarest; Orrin Devinsky; Jenny Downs; Elia M Pestana Knight; Heather Olson; Carol-Anne Partridge; Graham Stuart; Marina Trivisano; Sameer Zuberi; Tim A Benke
Journal:  Front Neurol       Date:  2022-06-20       Impact factor: 4.086

5.  CDKL5 and ARX mutations in males with early-onset epilepsy.

Authors:  Ghayda M Mirzaa; Alex R Paciorkowski; Eric D Marsh; Elizabeth M Berry-Kravis; Livija Medne; Asem Alkhateeb; Art Grix; Elaine C Wirrell; Berkley R Powell; Katherine C Nickels; Barbara Burton; Andrea Paras; Katherine Kim; Wendy Chung; William B Dobyns; Soma Das
Journal:  Pediatr Neurol       Date:  2013-05       Impact factor: 3.372

6.  PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.

Authors:  Pawel Gawlinski; Renata Posmyk; Tomasz Gambin; Danuta Sielicka; Monika Chorazy; Beata Nowakowska; Shalini N Jhangiani; Donna M Muzny; Monika Bekiesinska-Figatowska; Jerzy Bal; Eric Boerwinkle; Richard A Gibbs; James R Lupski; Wojciech Wiszniewski
Journal:  Pediatr Neurol       Date:  2016-04-09       Impact factor: 3.372

Review 7.  What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.

Authors:  Charlotte Kilstrup-Nielsen; Laura Rusconi; Paolo La Montanara; Dalila Ciceri; Anna Bergo; Francesco Bedogni; Nicoletta Landsberger
Journal:  Neural Plast       Date:  2012-06-17       Impact factor: 3.599

8.  There is variability in the attainment of developmental milestones in the CDKL5 disorder.

Authors:  Stephanie Fehr; Helen Leonard; Gladys Ho; Simon Williams; Nick de Klerk; David Forbes; John Christodoulou; Jenny Downs
Journal:  J Neurodev Disord       Date:  2015-01-05       Impact factor: 4.025

9.  Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.

Authors:  Liying Liu; Fang Liu; Qiuhong Wang; Hua Xie; Zhengchang Li; Qian Lu; Yangyang Wang; Mengna Zhang; Yu Zhang; Jonathan Picker; Xiaodai Cui; Liping Zou; Xiaoli Chen
Journal:  Mol Genet Genomic Med       Date:  2021-05-05       Impact factor: 2.183

Review 10.  Benign and severe early-life seizures: a round in the first year of life.

Authors:  Piero Pavone; Giovanni Corsello; Martino Ruggieri; Silvia Marino; Simona Marino; Raffaele Falsaperla
Journal:  Ital J Pediatr       Date:  2018-05-15       Impact factor: 2.638
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