Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

Bogaert, Patrick Van; Azizieh, Régis; Désir, Julie; Aeby, Alec; Meırleır, Linda De; Laes, Jean-François; Christiaens, Florence; Abramowicz, Marc-Joel

doi:10.1002/ana.21121

Cited by 104 publications

(113 citation statements)

References 28 publications

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“…Intriguingly, murine cerebellar cells derived from a juvenile NCL model (CLN3) showed enrichment of endogenous KCTD7. Whereas KCTD7 mutations have previously been linked to progressive myoclonic epilepsy, with or without lysosomal storage, this study clearly demonstrated that KCTD7 mutations also cause a rare, infantile-onset NCL subtype (designated CLN14) [8,9].…”

Section: Accepted Manuscriptmentioning

confidence: 87%

“…The DNA screening was done under a research protocol [5,6]. This methodology has emerged in recent years as a useful tool for NCL diagnosis and enhancing subtype classification [7][8][9][10][11][12][13][14][15][16][17][18][19][20]. Increasing recognition of variant phenotypes associated with specific NCL genetic etiologies challenges diagnosis based solely on clinical history or pathologic features.…”

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confidence: 99%

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The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Kohan

Pesaola

Guelbert

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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1) The study confirmed NCL disease in 122 subjects. Phenotypic studies comprised epileptic seizures and movement disorders, ophthalmology, neurophysiology, image analysis, rating scales, enzyme testing, and electron microscopy, carried out under a consensus algorithm; 2) DNA screening and validation of mutations in genes PPT1 (CLN1), TPP1 (CLN2), CLN3, CLN5, CLN6, MFSD8 (CLN7), and CLN8: characterization of variant types, novel/known mutations and polymorphisms; 3) Progress of the epidemiological picture in Latin America; and 4) NCL-like pathology studies in progress. The Translational Research Program was highly efficient in addressing the misdiagnosis/underdiagnosis in the NCL disorders. The study of "orphan diseases" in a public administrated hospital should be adopted by the health systems, as it positively impacts upon the family's quality of life, the collection of epidemiological data, and triggers research advances. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".

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Section: Accepted Manuscriptmentioning

confidence: 87%

mentioning

confidence: 99%

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Kohan

Pesaola

Guelbert

et al. 2015

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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“…In addition to metabolic disorders, mutations in KCTD7, encoding a regulator of conductance in neurons, have been reported in patients with PME starting between 8 and 24 months with variability in the severity of symptoms [227].…”

Section: Progressive Myoclonus Epilepsiesmentioning

confidence: 99%

Epilepsy genetics: The ongoing revolution

Lesca

Depienne

2015

Revue Neurologique

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“…In this respect, the recent paper by Van Bogaert et al is also illustrative and reinforces this common idea of a continuum (phenotypic heterogeneity). They describe a large family with progressive (generalised myoclonic) epilepsy, with a pathogenic potassium channel mutation (KCTD7) [51].…”

Section: Benign Partial Childhood Epilepsiesmentioning

confidence: 99%

What’s new in: “Genetics in childhood epilepsy”

Lagae

2008

Eur J Pediatr

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In recent years, different mutations in genes that control the excitability of neurons have been described in idiopathic childhood epilepsies. Most commonly, sodium/potassium channelopathies and GABA-receptor mutations are involved. Major progress has been made in the field of idiopathic generalised epilepsies associated with febrile seizures (GEFS+). It now is becoming clear that mutations should not only be looked for in familial cases, but also in sporadic cases, especially in infants and young children with unexplained severe epileptic encephalopathies. Many studies also define 'epilepsy susceptibility genes', which contribute to one's individual genetic vulnerability to develop epilepsy. It should be realized, however, that in the most common idiopathic benign childhood epilepsies (benign rolandic and occipital epilepsies), major breakthroughs are still awaited. In addition, a better clinical description of the epileptic phenotypes is needed to explain more precisely the genotypic and phenotypic heterogeneity. Genetic studies are nowadays becoming a necessary diagnostic step in the evaluation of idiopathic childhood epilepsies, not only in familial cases, but also in sporadic cases.

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Mutation of a potassium channel–related gene in progressive myoclonic epilepsy

Abstract: Neurodegeneration in progressive myoclonic epilepsy presented by our patients paralleled the refractoriness of epilepsy. The disease was transmitted as an autosomal recessive trait linked to a novel locus at 7q11.2, where we identified a mutation in KCTD7.

Cited by 104 publications

References 28 publications

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina

Epilepsy genetics: The ongoing revolution

What’s new in: “Genetics in childhood epilepsy”

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