Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females-Reference-Cited by-同舟云学术

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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

Published:2011-05 Issue:5 Volume:13 Page:447-452
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Bartnik Magdalena,Derwińska Katarzyna,Gos Monika,Obersztyn Ewa,Kołodziejska Katarzyna E.,Erez Ayelet,Szpecht-Potocka Agnieszka,Fang Ping,Terczyńska Iwona,Mierzewska Hanna,Lohr Naomi J.,Bellus Gary A.,Reimschisel Tyler,Bocian Ewa,Mazurczak Tadeusz,Cheung Sau Wai,Stankiewicz Paweł

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference26 articles.

Cited by 48 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Psychometric evaluation of clinician‐ and caregiver‐reported clinical severity assessments for individuals with CDKL5 deficiency disorder;Epilepsia;2024-08-27

2. Research progress on the pathogenesis of CDKL5 pathogenic variants and related encephalopathy;European Journal of Pediatrics;2023-05-11

3. CDKL5 Deficiency Disorder (CDD)—Rare Presentation in Male;Children;2022-11-24

4. High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV;Molecular Genetics & Genomic Medicine;2022-09-20

5. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial;The Lancet Neurology;2022-05

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