Literature DB >> 33201365

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.

Marianna Alagia1, Pia Bernardo1,2, Rita Genesio3, Elena Gennaro4, Nicola Brunetti-Pierri5, Antonietta Coppola6, Federico Zara4, Pasquale Striano7, Salvatore Striano6, Gaetano Terrone8.   

Abstract

Entities:  

Keywords:  1p13.2 microdeletion syndrome; Developmental and epileptic encephalopathy; NRAS gene; SCN8A gene

Mesh：

Substances：

Year:  2020        PMID： 33201365     DOI： 10.1007/s10072-020-04898-1

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  5 in total

Review 1.  Epilepsy in RAS/MAPK syndrome: two cases of cardio-facio-cutaneous syndrome with epileptic encephalopathy and a literature review.

Authors:  Masao Adachi; Yu Abe; Yoko Aoki; Yoichi Matsubara
Journal:  Seizure       Date:  2011-08-25       Impact factor: 3.184

2.  The phenotype of SCN8A developmental and epileptic encephalopathy.

Authors:  Elena Gardella; Carla Marini; Marina Trivisano; Mark P Fitzgerald; Michael Alber; Katherine B Howell; Francesca Darra; Sabrina Siliquini; Bigna K Bölsterli; Silva Masnada; Anna Pichiecchio; Katrine M Johannesen; Birgit Jepsen; Elena Fontana; Gaia Anibaldi; Silvia Russo; Francesca Cogliati; Martino Montomoli; Nicola Specchio; Guido Rubboli; Pierangelo Veggiotti; Sandor Beniczky; Markus Wolff; Ingo Helbig; Federico Vigevano; Ingrid E Scheffer; Renzo Guerrini; Rikke S Møller
Journal:  Neurology       Date:  2018-08-31       Impact factor: 9.910

3.  Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Authors:  Elena Gardella; Felicitas Becker; Rikke S Møller; Julian Schubert; Johannes R Lemke; Line H G Larsen; Hans Eiberg; Michael Nothnagel; Holger Thiele; Janine Altmüller; Steffen Syrbe; Andreas Merkenschlager; Thomas Bast; Bernhard Steinhoff; Peter Nürnberg; Yuan Mang; Louise Bakke Møller; Pia Gellert; Sarah E Heron; Leanne M Dibbens; Sarah Weckhuysen; Hans Atli Dahl; Saskia Biskup; Niels Tommerup; Helle Hjalgrim; Holger Lerche; Sándor Beniczky; Yvonne G Weber
Journal:  Ann Neurol       Date:  2016-02-13       Impact factor: 10.422

Review 4.  The genetic landscape of the epileptic encephalopathies of infancy and childhood.

Authors:  Amy McTague; Katherine B Howell; J Helen Cross; Manju A Kurian; Ingrid E Scheffer
Journal:  Lancet Neurol       Date:  2015-11-17       Impact factor: 44.182

5.  1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

Authors:  Natália Duarte Linhares; Maíra Cristina Menezes Freire; Raony Guimarães Corrêa do Carmo Lisboa Cardenas; Heloisa Barbosa Pena; Katherine Lachlan; Bruno Dallapiccola; Carlos Bacino; Bruno Delobel; Paul James; Ann-Charlotte Thuresson; Göran Annerén; Sérgio D J Pena
Journal:  Genet Mol Biol       Date:  2016-08-04       Impact factor: 1.771
  5 in total

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