Genetic or other causation should not change the clinical diagnosis of cerebral palsy

AH MacLennan, S Lewis… - Journal of child …, 2019 - journals.sagepub.com
High throughput sequencing is discovering many likely causative genetic variants in
individuals with cerebral palsy. Some investigators have suggested that this changes the …

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing

CL van Eyk, DL Webber, AE Minoche… - NPJ genomic …, 2021 - nature.com
Cerebral palsy (CP) is the most common cause of childhood physical disability, with
incidence between 1/500 and 1/700 births in the developed world. Despite increasing …

Genetic testing in individuals with cerebral palsy

HJ May, JA Fasheun, JM Bain… - … Medicine & Child …, 2021 - Wiley Online Library
AIM To determine which patients with cerebral palsy (CP) should undergo genetic testing,
we compared the rate of likely causative genetic variants from whole‐exome sequencing in …

Genomic analysis identifies masqueraders of full‐term cerebral palsy

Y Takezawa, A Kikuchi, K Haginoya… - Annals of Clinical …, 2018 - Wiley Online Library
Objective Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that
causes movement and postural disabilities. Recent studies have suggested genetic …

Genetic insights into the causes and classification of the cerebral palsies

A Moreno-De-Luca, DH Ledbetter, CL Martin - The lancet neurology, 2012 - thelancet.com
Cerebral palsy—the most common physical disability of childhood—is a clinical diagnosis
encompassing a heterogeneous group of neurodevelopmental disorders that cause …

Insights from genetic studies of cerebral palsy

SA Lewis, S Shetty, BA Wilson, AJ Huang… - Frontiers in …, 2021 - frontiersin.org
Cohort-based whole exome and whole genome sequencing and copy number variant
(CNV) studies have identified genetic etiologies for a sizable proportion of patients with …

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

CL van Eyk, MC Fahey, J Gecz - Nature Reviews Neurology, 2023 - nature.com
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

[HTML][HTML] Cerebral palsy: causes, pathways, and the role of genetic variants

AH MacLennan, SC Thompson, J Gecz - American journal of obstetrics and …, 2015 - Elsevier
Cerebral palsy (CP) is heterogeneous with different clinical types, comorbidities, brain
imaging patterns, causes, and now also heterogeneous underlying genetic variants. Few …

[HTML][HTML] Atypical cerebral palsy: genomics analysis enables precision medicine

AM Matthews, I Blydt-Hansen, B Al-Jabri, J Andersen… - Genetics in …, 2019 - Elsevier
Purpose The presentation and etiology of cerebral palsy (CP) are heterogeneous.
Diagnostic evaluation can be a prolonged and expensive process that might remain …

Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy

G McMichael, MN Bainbridge, E Haan, M Corbett… - Molecular …, 2015 - nature.com
Cerebral palsy (CP) is a common, clinically heterogeneous group of disorders affecting
movement and posture. Its prevalence has changed little in 50 years and the causes remain …