ArticleMolecular psychiatry2001
A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree.
Article in Molecular psychiatry, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Genetic abnormalities in catatonia: a systematic review.Psychological medicine · 2025Pooled it
- Heterochronicity of white matter development and aging explains regional patient control differences in schizophrenia.Human brain mapping · 2016Pooled it
- Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder.Molecular psychiatry · 2006Trial
- Frozen emotions, frozen bodies: a systematic review of limbic system alterations in catatonia.European archives of psychiatry and clinical neuroscience · 2026Review
- Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report.European child & adolescent psychiatry · 2025Article
- Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.Frontiers in genetics · 2024Article
- Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.Open biology · 2021Article
- Plasma membrane localization of MLC1 regulates cellular morphology and motility.Molecular brain · 2019Article
- Article
- Motor Abnormalities: From Neurodevelopmental to Neurodegenerative Through "Functional" (Neuro)Psychiatric Disorders.Schizophrenia bulletin · 2017Review
- MLC1 protein: a likely link between leukodystrophies and brain channelopathies.Frontiers in cellular neuroscience · 2015Review
- Multimodal white matter imaging to investigate reduced fractional anisotropy and its age-related decline in schizophrenia.Psychiatry research · 2014Article
- Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.PloS one · 2012Article
- Flexible Accelerated STOP Tetracycline Operator-knockin (FAST): a versatile and efficient new gene modulating system.Biological psychiatry · 2010Article
- Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.Human molecular genetics · 2008Article
- Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia.Journal of neural transmission (Vienna, Austria : 1996) · 2006Article
- Subtyping schizophrenia: implications for genetic research.Molecular psychiatry · 2006Review
- Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.American journal of human genetics · 2005Article
- Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia.BMC psychiatry · 2005Article
- Multicenter linkage study of schizophrenia loci on chromosome 22q.Molecular psychiatry · 2004Article
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11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schizophrenia is a common and etiologically heterogeneous disorder. Although inheritance of schizophrenic syndromes is complex with genetic and environmental factors contributing to the clinical phenotype, periodic catatonia, a familial subtype of catatonic schizophrenia, appears to be transmitted in an autosomal dominant manner. We report here that a Leu309Met mutation in WKL1, a positional candidate gene on chromosome 22q13.33 encoding a putative non-selective cation channel expressed exclusively in brain, co-segregates with periodic catatonia in an extended pedigree. Structural analyses revealed that this missense mutation results in conformational changes of the mutant protein. Our results not only underscore the importance of genetic mechanisms in the etiology of schizophrenic syndromes, but also provide a better understanding of the pathogenesis and incapacitating course of catatonic schizophrenia and related disorders.
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