Literature DB >> 30612077

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations.

Carlotta Spagnoli1, Daniele Frattini2, Susanna Rizzi2, Grazia Gabriella Salerno2, Carlo Fusco3.   

Abstract

Entities:  

Keywords:  Dravet syndrome; Early infantile epileptic encephalopathy; Movement disorder; Refractory epilepsy; SCN1A

Year:  2019        PMID： 30612077     DOI： 10.1016/j.seizure.2019.01.002

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  5 in total

Review 1.  Sodium channelopathies of skeletal muscle and brain.

Authors:  Massimo Mantegazza; Sandrine Cestèle; William A Catterall
Journal:  Physiol Rev       Date:  2021-03-26       Impact factor: 46.500

Review 2.  SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Authors:  Jiangwei Ding; Xinxiao Li; Haiyan Tian; Lei Wang; Baorui Guo; Yangyang Wang; Wenchao Li; Feng Wang; Tao Sun
Journal:  Front Neurol       Date:  2021-12-24       Impact factor: 4.003

3.  Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature.

Authors:  Ana Victoria Marco Hernández; Miguel Tomás Vila; Alfonso Caro Llopis; Sandra Monfort; Francisco Martinez
Journal:  Front Neurol       Date:  2021-11-30       Impact factor: 4.003

4.  Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.

Authors:  Ida Stenshorne; Marte Syvertsen; Anette Ramm-Pettersen; Susanne Henning; Elisabeth Weatherup; Alf Bjørnstad; Natalia Brüggemann; Torstein Spetalen; Kaja K Selmer; Jeanette Koht
Journal:  Front Pediatr       Date:  2022-08-01       Impact factor: 3.569

5.  De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Authors:  Dana Jaber; Cyril Gitiaux; Sophie Blesson; Florent Marguet; David Buard; Maritzaida Varela Salgado; Anna Kaminska; Julien Saada; Catherine Fallet-Bianco; Jelena Martinovic; Annie Laquerriere; Judith Melki
Journal:  J Med Genet       Date:  2020-09-14       Impact factor: 6.318
  5 in total

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