Skip to Main Content
S. Karger AG
header search
Search
Advanced Search
Skip Nav Destination

Issues

Volume 7, Issue 4
September 2016
Molecular Syndromology Cover Image for Volume 7, Issue 4
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2016, Vol. 7, No. 4

 

Title Page / Table of Contents
Mol Syndromol (2016) 7 (4): 165–168. https://doi.org/10.1159/000449454
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Preface

Towards a Molecular Syndromology of the Epilepsies
Thomas Dorn; Johannes R. Lemke
Mol Syndromol (2016) 7 (4): 169–171. https://doi.org/10.1159/000448358
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Review Article

Understanding Genotypes and Phenotypes in Epileptic Encephalopathies
Ingo Helbig; Ahmad N. Abou Tayoun
Mol Syndromol (2016) 7 (4): 172–181. https://doi.org/10.1159/000448530
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Original Article

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A
Steffen Syrbe; Boris S. Zhorov; Astrid Bertsche; Matthias K. Bernhard; Frauke Hornemann; Ulrike Mütze; Jessica Hoffmann; Konstanze Hörtnagel; Wieland Kiess; Franz W. Hirsch; Johannes R. Lemke; Andreas Merkenschlager
Mol Syndromol (2016) 7 (4): 182–188. https://doi.org/10.1159/000447526
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures
Snezana Maljevic; Sabina Vejzovic; Matthias K. Bernhard; Astrid Bertsche; Sebastian Weise; Miriam Döcker; Holger Lerche; Johannes R. Lemke; Andreas Merkenschlager; Steffen Syrbe
Mol Syndromol (2016) 7 (4): 189–196. https://doi.org/10.1159/000447461
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Review Article

Seizures and Epilepsies due to Channelopathies and Neurotransmitter Receptor Dysfunction: A Parallel between Genetic and Immune Aspects
Agustina M. Lascano; Christian M. Korff; Fabienne Picard
Mol Syndromol (2016) 7 (4): 197–209. https://doi.org/10.1159/000447707
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Original Article

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies
Rikke S. Møller; Line H.G. Larsen; Katrine M. Johannesen; Inga Talvik; Tiina Talvik; Ulvi Vaher; Maria J. Miranda; Muhammad Farooq; Jens E.K. Nielsen; Lene Lavard Svendsen; Ditte B. Kjelgaard; Karen M. Linnet; Qin Hao; Peter Uldall; Mimoza Frangu; Niels Tommerup; Shahid M. Baig; Uzma Abdullah; Alfred P. Born; Pia Gellert; Marina Nikanorova; Kern Olofsson; Birgit Jepsen; Dragan Marjanovic; Lana I.K. Al-Zehhawi; Sofia J. Peñalva; Bente Krag-Olsen; Klaus Brusgaard; Helle Hjalgrim; Guido Rubboli; Deb K. Pal; Hans A. Dahl
Mol Syndromol (2016) 7 (4): 210–219. https://doi.org/10.1159/000448369
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Review Article

Genetic Basis of Brain Malformations
Elena Parrini; Valerio Conti; William B. Dobyns; Renzo Guerrini
Mol Syndromol (2016) 7 (4): 220–233. https://doi.org/10.1159/000448639
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

Original Article

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Caroline Lund; Pasquale Striano; Hanne Sørmo Sorte; Pasquale Parisi; Michele Iacomino; Ying Sheng; Magnus D. Vigeland; Anne-Marte Øye; Rikke Steensbjerre Møller; Kaja K. Selmer; Federico Zara
Mol Syndromol (2016) 7 (4): 234–238. https://doi.org/10.1159/000448367
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome
Vincent Strehlow; Marielle E.M. Swinkels; Rhys H. Thomas; Nora Rapps; Steffen Syrbe; Thomas Dorn; Johannes R. Lemke
Mol Syndromol (2016) 7 (4): 239–246. https://doi.org/10.1159/000448445
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window

 

Author Index Vol. 7, No. 4, 2016
Mol Syndromol (2016) 7 (4): 247. https://doi.org/10.1159/000449455
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
Subject Index Vol. 7, No. 4, 2016
Mol Syndromol (2016) 7 (4): 248. https://doi.org/10.1159/000449456
View articletitled, SCM.SharedControls.Infrastructure.TitleDisplayModel?.Text
Open the PDF for in another window
A novel HECW2 variant (c.4354G>A; p. Gly1452Ser) in Chinese patient with developmental delay, neurodevelopmental delay and hypotonia
5-Oxoprolinase deficiency and epilepsy: report of four cases with new clinical findings and clinical diversity even in the same family
A novel GATAD2B frameshift variant causes GATAD2B-associated neurodevelopmental disorder with camptodactyly
Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: Report of Two Cases and Literature Review
  • Online ISSN 1661-8777
  • Print ISSN 1661-8769
Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal