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Items: 3

1.
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Sorina M. Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L. Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda, Eileen Socher, Lisa M. Crowther, Gabriele Wohlrab, Laura Gogoll, Martin Poms, Michelle Seiler, Michael Papik, Rosa Baldinger, Alessandra Baumer, Reza Asadollahi, Judith Kroell-Seger, Regula Schmid, Tobias Iff, Thomas Schmitt-Mechelke, Karoline Otten, Annette Hackenberg, Marie-Claude Addor, Andrea Klein, Silvia Azzarello-Burri, Heinrich Sticht, Pascal Joset, Barbara Plecko, Anita Rauch
Eur J Hum Genet. 2019 Mar; 27(3): 408–421. Published online 2018 Dec 14. doi: 10.1038/s41431-018-0299-8
PMCID:
PMC6460568
AbstractArticlePDF–2.1M
2.
Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy
Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong
PLoS One. 2015; 10(5): e0126446. Published online 2015 May 7. doi: 10.1371/journal.pone.0126446
PMCID:
PMC4423861
AbstractArticlePDF–662K
3.
There is variability in the attainment of developmental milestones in the CDKL5 disorder
Stephanie Fehr, Helen Leonard, Gladys Ho, Simon Williams, Nick de Klerk, David Forbes, John Christodoulou, Jenny Downs
J Neurodev Disord. 2015; 7(1): 2. Published online 2015 Jan 5. doi: 10.1186/1866-1955-7-2
PMCID:
PMC4318547
AbstractArticlePDF–612K

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