The inositol trisphosphate/calcium signaling pathway in health and disease

MJ Berridge - Physiological reviews, 2016 - journals.physiology.org
Many cellular functions are regulated by calcium (Ca2+) signals that are generated by
different signaling pathways. One of these is the inositol 1, 4, 5-trisphosphate/calcium …

Cerebral palsy: diagnosis, epidemiology, genetics, and clinical update

A Michael-Asalu, G Taylor… - Advances in …, 2019 - advancesinpediatrics.com
DIAGNOSIS OF CEREBRAL PALSY The diagnosis of CP relies on a combination of
neurologic assessment, neuroimaging findings, and recognition of clinical risk factors …

[HTML][HTML] Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant… - Nature …, 2020 - nature.com
In addition to commonly associated environmental factors, genomic factors may cause
cerebral palsy. We performed whole-exome sequencing of 250 parent–offspring trios, and …

The genetic basis of cerebral palsy

MC Fahey, AH Maclennan… - … Medicine & Child …, 2017 - Wiley Online Library
Although prematurity and hypoxic–ischaemic injury are well‐recognized contributors to the
pathogenesis of cerebral palsy (CP), as many as one‐third of children with CP may lack …

Kv3 channels: enablers of rapid firing, neurotransmitter release, and neuronal endurance

LK Kaczmarek, Y Zhang - Physiological reviews, 2017 - journals.physiology.org
The intrinsic electrical characteristics of different types of neurons are shaped by the K+
channels they express. From among the more than 70 different K+ channel genes …

[HTML][HTML] Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

MA Cousin, BA Creighton, KA Breau, RC Spillmann… - Nature …, 2021 - nature.com
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-
scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin …

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 …

Genetic mimics of cerebral palsy

TS Pearson, R Pons, R Ghaoui, CM Sue - Movement disorders, 2019 - Wiley Online Library
The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …

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 …

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 …