Literature DB >> 30390306

Hot water epilepsy and SYN1 variants.

Angela Peron1,2, Nissan V Baratang3, Maria Paola Canevini1, Philippe M Campeau3, Aglaia Vignoli1.   

Abstract

Entities:  

Keywords:  zzm321990SYN1zzm321990; bathing seizures; hot water epilepsy; reflex seizures; synapsins

Mesh：

Year:  2018        PMID： 30390306     DOI： 10.1111/epi.14572

Source DB:  PubMed          Journal:  Epilepsia        ISSN： 0013-9580            Impact factor:   5.864


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  4 in total

1.  Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.

Authors:  Juan Xiong; Haolin Duan; Shimeng Chen; Miriam Kessi; Fang He; Xiaolu Deng; Ciliu Zhang; Li Yang; Jing Peng; Fei Yin
Journal:  BMC Med Genomics       Date:  2021-07-09       Impact factor: 3.063

2.  Autoantibodies to synapsin I sequestrate synapsin I and alter synaptic function.

Authors:  Anna Rocchi; Silvio Sacchetti; Antonio De Fusco; Silvia Giovedi; Barbara Parisi; Fabrizia Cesca; Markus Höltje; Klemens Ruprecht; Gudrun Ahnert-Hilger; Fabio Benfenati
Journal:  Cell Death Dis       Date:  2019-11-14       Impact factor: 8.469

3.  Assessment of Autism Zebrafish Mutant Models Using a High-Throughput Larval Phenotyping Platform.

Authors:  Alexandra Colón-Rodríguez; José M Uribe-Salazar; KaeChandra B Weyenberg; Aditya Sriram; Alejandra Quezada; Gulhan Kaya; Emily Jao; Brittany Radke; Pamela J Lein; Megan Y Dennis
Journal:  Front Cell Dev Biol       Date:  2020-11-23

4.  Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Authors:  Andrea Accogli; Gert Wiegand; Marcello Scala; Caterina Cerminara; Michele Iacomino; Antonella Riva; Barbara Carlini; Letizia Camerota; Vincenzo Belcastro; Paolo Prontera; Alberto Fernández-Jaén; Nerses Bebek; Paolo Scudieri; Simona Baldassari; Vincenzo Salpietro; Giuseppe Novelli; Chiara De Luca; Celina von Stülpnagel; Felicitas Kluger; Gerhard Josef Kluger; Gabriele Christine Wohlrab; Georgia Ramantani; David Lewis-Smith; Rhys H Thomas; Ming Lai; Alberto Verrotti; Salvatore Striano; Christel Depienne; Carlo Minetti; Fabio Benfenati; Francesco Brancati; Federico Zara; Pasquale Striano
Journal:  Neurology       Date:  2021-06-02       Impact factor: 9.910
  4 in total

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