Work

Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state

Year: 2017

Type: article

Study design: Case Report

Source: Clinica Chimica Acta

DOI: 10.1016/j.cca.2017.08.001

Authors: Marwa Ben Jdila, Abir Ben Issa, Boudour Khabou, Bochra Ben Rhouma, Fatma Kamoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfakh

Institutions: University of Sfax, Hopital Universitaire Hedi Chaker, Faculty of Medicine of Sfax, Faculty of Sciences of Sfax

Language: English

Topic: Epilepsy research and treatment

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2742778221

FWCI: 0.743

Cites: 39

Cited by: 10

Related to: 10