Association of the connexin36 gene with juvenile myoclonic epilepsy

Mas, Christophe; Taske, Nichole; Deutsch, Samuel; Guipponi, Michel; Thomas, Pierre; Covanis, Athanasios; Friis, Mogens Laue; Kjeldsen, Marianne Juel; Pizzolato, Giulia; Villemure, Jean‐Guy; Burési, Catherine; Rees, Michele; Malafosse, Alain; Gardiner, Mark; Antonarakis, Stylianos E.; Meda, Paolo

doi:10.1136/jmg.2003.017954

Cited by 95 publications

(56 citation statements)

References 40 publications

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“…These findings, and the decreased expression of Cx36 observed in models of drug-induced neuronal firing (497), suggest that this Cx may be involved in the development of some forms of epilepsy. Consistent with this idea, a variant of the human Cx36 gene was found associated with the juvenile myoclonic form of epilepsy (205,327). The mechanism whereby a base change, which does not affect the amino acid sequence of the cognate protein, results in disease, remains to be understood.…”

Section: Neural Synchronizationsupporting

confidence: 55%

“…Subsequently, a number of the functions that were circumstantially inferred from these studies have been confirmed and/or extended using specific genetic tools, whereby selected connexins have been altered in genetically modified mice, including general and cell-specific knockouts, cell-specific overexpresion of individual connexin isoforms, and knock-in replacement of one connexin species by another (121,411,569). The functional importance of connexins and junctional communication is also evident from the increasing number of human genetic diseases that have been associated with connexin mutations and pathogenic single nucleotide polymorphisms (144,145,146,205,327,426,569), as well as the growing list of acquired diseases in which a connexin participation is contemplated, if not thought to play a central role (TABLE 2). The following sections comment on some of the functions that have been identified in vivo.…”

Section: F the Physiological Functionsmentioning

confidence: 94%

“…Interestingly, however, Cx36 knock-out mice are viable and do not exhibit major anatomical or functional alterations of the CNS (24,110,317). They also have normal motor coordination and behavior (110,263,327). Presumably, the absence of an obvious neurological phenotype implies some compensation for the loss of Cx36 (461).…”

Section: Neural Synchronizationmentioning

confidence: 99%

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Connexins: Key Mediators of Endocrine Function

Bosco

Haefliger

Meda

2011

Physiological Reviews

158

185

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The appearance of multicellular organisms imposed the development of several mechanisms for cell-to-cell communication, whereby different types of cells coordinate their function. Some of these mechanisms depend on the intercellular diffusion of signal molecules in the extracellular spaces, whereas others require cell-to-cell contact. Among the latter mechanisms, those provided by the proteins of the connexin family are widespread in most tissues. Connexin signaling is achieved via direct exchanges of cytosolic molecules between adjacent cells at gap junctions, for cell-to-cell coupling, and possibly also involves the formation of membrane “hemi-channels,” for the extracellular release of cytosolic signals, direct interactions between connexins and other cell proteins, and coordinated influence on the expression of multiple genes. Connexin signaling appears to be an obligatory attribute of all multicellular exocrine and endocrine glands. Specifically, the experimental evidence we review here points to a direct participation of the Cx36 isoform in the function of the insulin-producing β-cells of the endocrine pancreas, and of the Cx40 isoform in the function of the renin-producing juxtaglomerular epithelioid cells of the kidney cortex.

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Section: Neural Synchronizationsupporting

confidence: 55%

Section: F the Physiological Functionsmentioning

confidence: 94%

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Connexins: Key Mediators of Endocrine Function

Bosco

Haefliger

Meda

2011

Physiological Reviews

158

185

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“…It is also known that neurotransmission through electrical synapses plays an important role in spike synchrony among neurons and oscillations in neuronal networks [26,32,33] . Moreover, the confirmed association of the Cx36 gene with human juvenile myoclonic epilepsy [34,35] makes Cx36 a strong candidate for epilepsy research.…”

Section: Gap Junctions In the Brainmentioning

confidence: 99%

Role of gap junctions in epilepsy

Jin

Chen

2011

Neurosci. Bull.

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Epilepsy is a common neurological disorder characterized by periodic and unpredictable seizures. Gap junctions have recently been proposed to be involved in the generation, synchronization and maintenance of seizure events.The present review mainly summarizes recent reports concerning the contribution of gap junctions to the pathophysiology of epilepsy, together with the regulation of connexin after clinical and experimental seizure activity. The anticonvulsant effects of gap junction blockers both in vitro and in vivo suggest that the gap junction is a candidate target for the development of antiepileptic drugs. It is also of interest that the roles of neuronal and astrocytic gap junctions in epilepsy have been investigated independently, based on evidence from pharmacological manipulations and connexin-knockout mice.Further studies using more specific manipulations of gap junctions in different cell types and in human epileptic tissue are needed to fully uncover the role of gap junctions in epilepsy.

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“…[52]. Three SNP susceptibility alleles of putative JME genes in epistasis, namely, BRD2 (bromodomain-containing 2), [53] Cx-36 (connexin 36), [54] and ME2 (malic enzyme2), [55] have been reported to be major susceptibility alleles that contribute to the complex genetics of JME. [42,56] The effect of epistasis is due to influences of multiple genes.…”

Section: Genetic Predisposition Theorymentioning

confidence: 99%

Cognitive Disorders in Juvenile Myoclonic Epilepsy

Шилкина¹,

Artyukhov²,

Moskaleva³

et al. 2017

Int J Biomed

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Cognitive disorders are often associated with epilepsy and are a result of a combination of various factors. This review describes scientific advances in the field of cognitive disorders in patients with juvenile myoclonic epilepsy (JME), the most common form of idiopathic generalized epilepsy. Data in this review were collected through an extensive literature search of available full-text publications in PubMed and eLIBRARY.RU databases. We selected four theories of the origin of cognitive impairment in JME patients for discussion, based on the analysis of available studies. Our findings highlight the etiological heterogeneity of cognitive disorders in JME and the importance early screening for them. (Int J Biomed. 2017; 7(1):9-14.)

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Association of the connexin36 gene with juvenile myoclonic epilepsy

Cited by 95 publications

References 40 publications

Connexins: Key Mediators of Endocrine Function

Connexins: Key Mediators of Endocrine Function

Role of gap junctions in epilepsy

Cognitive Disorders in Juvenile Myoclonic Epilepsy

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