Literature DB >> 33161245

Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene.

Vincenzo Mastrangelo1, Raffaella Minardi2, Maria Chiara Baroni3, Giulia Severi4, Enrico Ambrosini4, Francesco Toni5, Lara Alvisi6, Laura Licchetta6, Francesca Bisulli6, Paolo Tinuper6, Barbara Mostacci2.   

Abstract

Entities:  

Keywords:  Generalized epilepsy; Jeavons syndrome; Macrocephaly; NSD1; Overgrowth

Mesh：

Substances：

Year:  2020        PMID： 33161245     DOI： 10.1016/j.seizure.2020.10.016

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


× No keyword cloud information.
  2 in total

1.  Seizures in Sotos syndrome: Phenotyping in 49 patients.

Authors:  Olivier Fortin; Christian Vincelette; Afsheen Q Khan; Saoussen Berrahmoune; Christelle Dassi; Mitra Karimi; Ingrid E Scheffer; Jun Lu; Kellie Davis; Kenneth A Myers
Journal:  Epilepsia Open       Date:  2021-04-09

2.  Developmental Delay and Epilepsy Without Gigantism: An Unusual Presentation of Soto's Syndrome Due to A Novel Mutation in the NSD1 Gene.

Authors:  Prateek Kumar Panda; Radhika Nandani; Sonalika Mehta; Indar Kumar Sharawat
Journal:  Ann Indian Acad Neurol       Date:  2021-06-29       Impact factor: 1.383
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.