ArticleAnnals of clinical and translational neurology2015
Epilepsy, cognitive deficits and neuroanatomy in males with ZDHHC9 mutations.
Article in Annals of clinical and translational neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 43 citations in OpenAlex.
- Article
- Article
- Fat traffic control: S-acylation in axonal transport.Molecular pharmacology · 2025Review
- Synaptic Function and Sensory Processing in ZDHHC9-Associated Neurodevelopmental Disorder: A Mechanistic Account.The European journal of neuroscience · 2025Article
- Review
- Thyroid hormone T3 induces Fyn modification and modulates palmitoyltransferase gene expression through αvβ3 integrin receptor in PC12 cells during hypoxia.Translational neuroscience · 2024Article
- zDHHC9 Regulates Cardiomyocyte Rab3a Activity and Atrial Natriuretic Peptide Secretion Through Palmitoylation of Rab3gap1.JACC. Basic to translational science · 2023Article
- Activity-dependent post-translational regulation of palmitoylating and depalmitoylating enzymes in the hippocampus.Journal of cell science · 2023Article
- S-Palmitoylation of Synaptic Proteins in Neuronal Plasticity in Normal and Pathological Brains.Cells · 2023Review
- GCP16 stabilizes the DHHC9 subfamily of protein acyltransferases through a conserved C-terminal cysteine motif.Frontiers in physiology · 2023Article
- Review
- Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.European journal of human genetics : EJHG · 2022Article
- A sticky situation: regulation and function of protein palmitoylation with a spotlight on the axon and axon initial segment.Neuronal signaling · 2021Review
- Regulatory effects of post-translational modifications on zDHHCThe Journal of biological chemistry · 2020Review
- Functional network dynamics in a neurodevelopmental disorder of known genetic origin.Human brain mapping · 2020Article
- Spatial organization of palmitoyl acyl transferases governs substrate localization and function.Molecular membrane biology · 2019Review
- Disruption of the Zdhhc9 intellectual disability gene leads to behavioural abnormalities in a mouse model.Experimental neurology · 2018Article
- Global and Local Connectivity Differences Converge With Gene Expression in a Neurodevelopmental Disorder of Known Genetic Origin.Cerebral cortex (New York, N.Y. : 1991) · 2017Article
- Structural brain abnormalities in a single gene disorder associated with epilepsy, language impairment and intellectual disability.NeuroImage. Clinical · 2016Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
objectiveSystematic investigation of individuals with intellectual disability after genetic diagnosis can illuminate specific phenotypes and mechanisms relevant to common neurodevelopmental disorders. We report the neurological, cognitive and neuroanatomical characteristics of nine males from three families with loss-of-function mutations in ZDHHC9 (OMIM #300799).
methodsAll known cases of X-linked intellectual disability (XLID) due to ZDHHC9 mutation in the United Kingdom were invited to participate in a study of neurocognitive and neuroimaging phenotypes.
resultsSeven out of nine males with ZDHHC9 mutations had been diagnosed with epilepsy, exceeding epilepsy risk in XLID comparison subjects (P = 0.01). Seizure histories and EEG features amongst ZDHHC9 mutation cases shared characteristics with rolandic epilepsy (RE). Specific cognitive deficits differentiated males with ZDHHC9 mutations from XLID comparison subjects and converged with reported linguistic and nonlinguistic deficits in idiopathic RE: impaired oromotor control, reduced verbal fluency, and impaired inhibitory control on visual attention tasks. Consistent neuroanatomical abnormalities included thalamic and striatal volume reductions and hypoplasia of the corpus callosum.
interpretationMutations in ZDHHC9 are associated with susceptibility to focal seizures and specific cognitive impairments intersecting with the RE spectrum. Neurocognitive deficits are accompanied by consistent abnormalities of subcortical structures and inter-hemispheric connectivity. The biochemical, cellular and network-level mechanisms responsible for the ZDHHC9-associated neurocognitive phenotype may be relevant to cognitive outcomes in RE.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.