[HTML][HTML] Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Genetic variants in chromatin regulators are frequently found in neurodevelopmental
disorders, but their effect in disease etiology is rarely determined. Here, we uncover and …
disorders, but their effect in disease etiology is rarely determined. Here, we uncover and …
[HTML][HTML] Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity
L Asselin, J Rivera Alvarez, S Heide, CS Bonnet… - Nature …, 2020 - nature.com
KIF21B is a kinesin protein that promotes intracellular transport and controls microtubule
dynamics. We report three missense variants and one duplication in KIF21B in individuals …
dynamics. We report three missense variants and one duplication in KIF21B in individuals …
[HTML][HTML] The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
L Lenaerts, S Reynhout, I Verbinnen… - Genetics in …, 2021 - nature.com
Purpose Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A)
dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA …
dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA …
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development
GM van Woerden, M Bos, C de Konink… - Human …, 2021 - Wiley Online Library
Thousand and one amino‐acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating
different mitogen‐activated protein kinase pathways, thereby modulating a multitude of …
different mitogen‐activated protein kinase pathways, thereby modulating a multitude of …
[PDF][PDF] Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
Summary Spermatogenesis-associated 5 like 1 (SPATA5L1) represents an orphan gene
encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 …
encoding a protein of unknown function. We report 28 bi-allelic variants in SPATA5L1 …
[PDF][PDF] De novo missense variants in FBXW11 cause diverse developmental phenotypes including brain, eye, and digit anomalies
The identification of genetic variants implicated in human developmental disorders has been
revolutionized by second-generation sequencing combined with international pooling of …
revolutionized by second-generation sequencing combined with international pooling of …
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
Background Variants in HECW2 have recently been reported to cause a
neurodevelopmental disorder with hypotonia, seizures and impaired language; however …
neurodevelopmental disorder with hypotonia, seizures and impaired language; however …
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
AR Deshwar, C Cytrynbaum, H Murthy, J Zon… - Brain, 2023 - academic.oup.com
The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5
(CLDN5), an important component of tight junctions, is critical for the integrity of the blood …
(CLDN5), an important component of tight junctions, is critical for the integrity of the blood …
[HTML][HTML] The different clinical facets of SYN1-related neurodevelopmental disorders
I Parenti, E Leitão, A Kuechler, L Villard… - Frontiers in Cell and …, 2022 - frontiersin.org
Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic
plasticity. Pathogenic SYN1 variants are associated with variable X-linked …
plasticity. Pathogenic SYN1 variants are associated with variable X-linked …
ATP8A2-related disorders as recessive cerebellar ataxia
C Guissart, AN Harrison, M Benkirane, I Oncel… - Journal of …, 2020 - Springer
ATP8A2-related disorders are autosomal recessive conditions that associate
encephalopathy with or without hypotonia, psychomotor delay, abnormal movements …
encephalopathy with or without hypotonia, psychomotor delay, abnormal movements …