Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia
Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. F...
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| Autor*in: |
Maggi, Lorenzo [verfasserIn] Ravaglia, Sabrina [verfasserIn] Farinato, Alessandro [verfasserIn] Brugnoni, Raffaella [verfasserIn] Altamura, Concetta [verfasserIn] Imbrici, Paola [verfasserIn] Camerino, Diana Conte [verfasserIn] Padovani, Alessandro [verfasserIn] Mantegazza, Renato [verfasserIn] Bernasconi, Pia [verfasserIn] Desaphy, Jean-François [verfasserIn] Filosto, Massimiliano [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 18(2017), 4 vom: 09. Okt., Seite 219-225 |
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| Übergeordnetes Werk: |
volume:18 ; year:2017 ; number:4 ; day:09 ; month:10 ; pages:219-225 |
| Links: |
|---|
| DOI / URN: |
10.1007/s10048-017-0525-5 |
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| 520 | |a Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. | ||
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10.1007/s10048-017-0525-5 doi (DE-627)SPR00823504X (SPR)s10048-017-0525-5-e DE-627 ger DE-627 rakwb eng Maggi, Lorenzo verfasserin aut Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. Congenital myotonia (dpeaa)DE-He213 Skeletal muscle channelopathies (dpeaa)DE-He213 gene (dpeaa)DE-He213 gene (dpeaa)DE-He213 Patch clamp (dpeaa)DE-He213 Ravaglia, Sabrina verfasserin aut Farinato, Alessandro verfasserin aut Brugnoni, Raffaella verfasserin aut Altamura, Concetta verfasserin aut Imbrici, Paola verfasserin aut Camerino, Diana Conte verfasserin aut Padovani, Alessandro verfasserin aut Mantegazza, Renato verfasserin aut Bernasconi, Pia verfasserin aut Desaphy, Jean-François verfasserin aut Filosto, Massimiliano verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 18(2017), 4 vom: 09. Okt., Seite 219-225 (DE-627)SPR00822823X nnns volume:18 year:2017 number:4 day:09 month:10 pages:219-225 https://dx.doi.org/10.1007/s10048-017-0525-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 18 2017 4 09 10 219-225 |
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10.1007/s10048-017-0525-5 doi (DE-627)SPR00823504X (SPR)s10048-017-0525-5-e DE-627 ger DE-627 rakwb eng Maggi, Lorenzo verfasserin aut Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. Congenital myotonia (dpeaa)DE-He213 Skeletal muscle channelopathies (dpeaa)DE-He213 gene (dpeaa)DE-He213 gene (dpeaa)DE-He213 Patch clamp (dpeaa)DE-He213 Ravaglia, Sabrina verfasserin aut Farinato, Alessandro verfasserin aut Brugnoni, Raffaella verfasserin aut Altamura, Concetta verfasserin aut Imbrici, Paola verfasserin aut Camerino, Diana Conte verfasserin aut Padovani, Alessandro verfasserin aut Mantegazza, Renato verfasserin aut Bernasconi, Pia verfasserin aut Desaphy, Jean-François verfasserin aut Filosto, Massimiliano verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 18(2017), 4 vom: 09. Okt., Seite 219-225 (DE-627)SPR00822823X nnns volume:18 year:2017 number:4 day:09 month:10 pages:219-225 https://dx.doi.org/10.1007/s10048-017-0525-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 18 2017 4 09 10 219-225 |
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10.1007/s10048-017-0525-5 doi (DE-627)SPR00823504X (SPR)s10048-017-0525-5-e DE-627 ger DE-627 rakwb eng Maggi, Lorenzo verfasserin aut Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. Congenital myotonia (dpeaa)DE-He213 Skeletal muscle channelopathies (dpeaa)DE-He213 gene (dpeaa)DE-He213 gene (dpeaa)DE-He213 Patch clamp (dpeaa)DE-He213 Ravaglia, Sabrina verfasserin aut Farinato, Alessandro verfasserin aut Brugnoni, Raffaella verfasserin aut Altamura, Concetta verfasserin aut Imbrici, Paola verfasserin aut Camerino, Diana Conte verfasserin aut Padovani, Alessandro verfasserin aut Mantegazza, Renato verfasserin aut Bernasconi, Pia verfasserin aut Desaphy, Jean-François verfasserin aut Filosto, Massimiliano verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 18(2017), 4 vom: 09. Okt., Seite 219-225 (DE-627)SPR00822823X nnns volume:18 year:2017 number:4 day:09 month:10 pages:219-225 https://dx.doi.org/10.1007/s10048-017-0525-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 18 2017 4 09 10 219-225 |
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10.1007/s10048-017-0525-5 doi (DE-627)SPR00823504X (SPR)s10048-017-0525-5-e DE-627 ger DE-627 rakwb eng Maggi, Lorenzo verfasserin aut Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. Congenital myotonia (dpeaa)DE-He213 Skeletal muscle channelopathies (dpeaa)DE-He213 gene (dpeaa)DE-He213 gene (dpeaa)DE-He213 Patch clamp (dpeaa)DE-He213 Ravaglia, Sabrina verfasserin aut Farinato, Alessandro verfasserin aut Brugnoni, Raffaella verfasserin aut Altamura, Concetta verfasserin aut Imbrici, Paola verfasserin aut Camerino, Diana Conte verfasserin aut Padovani, Alessandro verfasserin aut Mantegazza, Renato verfasserin aut Bernasconi, Pia verfasserin aut Desaphy, Jean-François verfasserin aut Filosto, Massimiliano verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 18(2017), 4 vom: 09. Okt., Seite 219-225 (DE-627)SPR00822823X nnns volume:18 year:2017 number:4 day:09 month:10 pages:219-225 https://dx.doi.org/10.1007/s10048-017-0525-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 18 2017 4 09 10 219-225 |
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10.1007/s10048-017-0525-5 doi (DE-627)SPR00823504X (SPR)s10048-017-0525-5-e DE-627 ger DE-627 rakwb eng Maggi, Lorenzo verfasserin aut Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. Congenital myotonia (dpeaa)DE-He213 Skeletal muscle channelopathies (dpeaa)DE-He213 gene (dpeaa)DE-He213 gene (dpeaa)DE-He213 Patch clamp (dpeaa)DE-He213 Ravaglia, Sabrina verfasserin aut Farinato, Alessandro verfasserin aut Brugnoni, Raffaella verfasserin aut Altamura, Concetta verfasserin aut Imbrici, Paola verfasserin aut Camerino, Diana Conte verfasserin aut Padovani, Alessandro verfasserin aut Mantegazza, Renato verfasserin aut Bernasconi, Pia verfasserin aut Desaphy, Jean-François verfasserin aut Filosto, Massimiliano verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 18(2017), 4 vom: 09. Okt., Seite 219-225 (DE-627)SPR00822823X nnns volume:18 year:2017 number:4 day:09 month:10 pages:219-225 https://dx.doi.org/10.1007/s10048-017-0525-5 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 18 2017 4 09 10 219-225 |
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Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia |
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Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia |
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Maggi, Lorenzo |
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Maggi, Lorenzo Ravaglia, Sabrina Farinato, Alessandro Brugnoni, Raffaella Altamura, Concetta Imbrici, Paola Camerino, Diana Conte Padovani, Alessandro Mantegazza, Renato Bernasconi, Pia Desaphy, Jean-François Filosto, Massimiliano |
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coexistence of clcn1 and scn4a mutations in one family suffering from myotonia |
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Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia |
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Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. |
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Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. |
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Abstract Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A>G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features. |
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Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia |
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Ravaglia, Sabrina Farinato, Alessandro Brugnoni, Raffaella Altamura, Concetta Imbrici, Paola Camerino, Diana Conte Padovani, Alessandro Mantegazza, Renato Bernasconi, Pia Desaphy, Jean-François Filosto, Massimiliano |
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Ravaglia, Sabrina Farinato, Alessandro Brugnoni, Raffaella Altamura, Concetta Imbrici, Paola Camerino, Diana Conte Padovani, Alessandro Mantegazza, Renato Bernasconi, Pia Desaphy, Jean-François Filosto, Massimiliano |
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