Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure-Reference-Cited by-同舟云学术

Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure

Published:2021-05-24 Issue:11 Volume:63 Page:1308-1315
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Olson Heather E¹²^ORCID,Costantini Julia G²,Swanson Lindsay C²,Kaufmann Walter E³^ORCID,Benke Timothy A⁴,Fulton Anne B⁵,Hansen Ronald⁵,Poduri Annapurna¹,Heidary Gena²⁵

Affiliation:

1. Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program Department of Neurology Harvard Medical School Boston Children’s Hospital Boston MAUSA

2. Department of Neurology CDKL5 Center of Excellence Boston Children’s Hospital Boston MAUSA

3. Department of Human Genetics Emory University School of Medicine Atlanta GAUSA

4. Neurology, Pharmacology and Otolaryngology School of Medicine Departments of Pediatrics Children’s Hospital Colorado University of Colorado Aurora COUSA

5. Department of Ophthalmology Harvard Medical School Boston Children’s Hospital Boston MA USA

Funder

Eunice Kennedy Shriver National Institute of Child Health and Human Development

International Foundation for CDKL5 Research

National Institute of Neurological Disorders and Stroke

Massachusetts Lions Eye Research Fund

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.14908

Reference30 articles.

1. Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

2. CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

3. Key clinical features to identify girls with CDKL5 mutations

4. There is variability in the attainment of developmental milestones in the CDKL5 disorder

5. CDKL5 mutations in early onset epilepsy: case report and review of the literature;Olson HE;J Pediatr Epilepsy,2012

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