Outlining a core neuropsychological phenotype for Dravet syndrome

Epilepsy Research
Domenica BattagliaFrancesco Guzzetta

Abstract

An up-to-date review on neuropsychological phenotypes in Dravet syndrome is reported. After recalling the results of various though not numerous studies in the literature, primarily retrospectively, the hypothesis of an original neuropsychological phenotype in Dravet syndrome is presented, consisting of a defect in sensorimotor integration, especially of visuoconstructive abilities. That is particularly evident in the less impaired patients and in the first several years of life. This core phenotype is eventually considered inside the analysis of the etiological multifactorial origin of the cognitive decline, which is especially expressed by the encephalopathy/channelopathy controversy.

References

Jan 1, 1992·Trends in Neurosciences·M A Goodale, A D Milner
Sep 1, 1992·Brain & Development·M YakoubP Plouin
Jun 1, 1991·The Japanese Journal of Psychiatry and Neurology·Y OhtsukaS Ohtahara
Jun 27, 2002·Biochemical and Biophysical Research Communications·Iori OhmoriKenji Shimizu
May 10, 2005·Human Mutation·John C MulleyLouise A Harkin
Aug 9, 2006·Epilepsy Research·Roberto Horacio Caraballo, Natalio Fejerman
Mar 10, 2007·Brain : a Journal of Neurology·Louise A HarkinIngrid E Scheffer
Jun 1, 2007·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Ikuo OgiwaraKazuhiro Yamakawa
Oct 27, 2009·Brain & Development·Francesca RagonaTiziana Granata
Sep 14, 2010·Epilepsia·Andrew Escayg, Alan L Goldin
Nov 27, 2010·Epilepsy Research·Daniela ChieffoFrancesco Guzzetta
Jan 21, 2011·Neurology·S M ZuberiG H Forbes
Mar 2, 2011·Vision Research·Oliver Braddick, Janette Atkinson
Apr 8, 2011·Epilepsia·Francesca Ragona
Apr 8, 2011·Epilepsia·Pierre GentonCharlotte Dravet
Apr 9, 2011·Epilepsy Research·Daniela ChieffoFrancesco Guzzetta
Jul 2, 2011·Brain : a Journal of Neurology·Claudia B CatarinoSanjay M Sisodiya
Jun 22, 2012·Brain : a Journal of Neurology·A BrunklausS M Zuberi
May 7, 2013·Epilepsy Research·Domenica BattagliaFrancesco Guzzetta
Nov 15, 2013·Orphanet Journal of Rare Diseases·Rima NabboutCatherine Chiron
Jan 15, 2014·Epilepsy & Behavior : E&B·Nathalie VilleneuveMathieu Milh
Feb 28, 2014·Epilepsia·Pasquale StrianoFederico Zara
May 20, 2014·Epilepsia·Andreas Brunklaus, Sameer M Zuberi
Dec 3, 2015·Epilepsy & Behavior : E&B·Daniela ChieffoFrancesco Guzzetta

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Citations

Oct 25, 2016·Epilepsy & Behavior : E&B·Sallie Baxendale, Pamela Thompson
Jan 16, 2019·Developmental Medicine and Child Neurology·Karen VerheyenAnn Hallemans
Oct 14, 2018·Current Treatment Options in Neurology·Julie ZiobroKelly G Knupp
Nov 25, 2020·Developmental Medicine and Child Neurology·Karen VerheyenAnn Hallemans
Aug 29, 2020·Epilepsy & Behavior : E&B·Amy BrownIngrid E Scheffer
Jun 19, 2021·Neurobiology of Disease·Nina MiljanovicHeidrun Potschka

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