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] 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 …

The emerging genetic landscape of cerebral palsy

CL Van Eyk, MA Corbett, AH Maclennan - Handbook of clinical neurology, 2018 - Elsevier
Cerebral palsy (CP) is a broad clinical descriptor that encompasses a heterogeneous group
of nonprogressive neurodevelopmental disabilities affecting movement and posture. While …

A diagnostic approach for cerebral palsy in the genomic era

RW Lee, A Poretti, JS Cohen, E Levey, H Gwynn… - Neuromolecular …, 2014 - Springer
An ongoing challenge in children presenting with motor delay/impairment early in life is to
identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as …

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 …

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

M Chopra, DL Gable, J Love‐Nichols… - Annals of clinical …, 2022 - Wiley Online Library
Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to
single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we …

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 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 …

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy

N Li, P Zhou, H Tang, L He, X Fang, J Zhao, X Wang… - Brain, 2022 - academic.oup.com
Cerebral palsy is the most prevalent physical disability in children; however, its inherent
molecular mechanisms remain unclear. In the present study, we performed in-depth clinical …

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 …