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Myoclonus-dystonia ...
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
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- Wictorin, Klas (författare)
- Lund University,Lunds universitet,Kliniska Vetenskaper, Helsingborg,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Clinical Sciences, Helsingborg,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Puschmann, Andreas (författare)
- Lund University,Lunds universitet,Klinisk neurogenetik,Forskargrupper vid Lunds universitet,Clinical Neurogenetics,Lund University Research Groups,Skåne University Hospital
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(creator_code:org_t)
- 2020
- 2020
- Engelska 3 s.
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Ingår i: Neurologia i neurochirurgia polska. - 0028-3843. ; 54:1, s. 3-5
- Relaterad länk:
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http://dx.doi.org/10... (free)
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visa fler...
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https://lup.lub.lu.s...
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https://doi.org/10.5...
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Abstract
Ämnesord
Stäng
- INTRODUCTION: Kaczyńska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. Further, patients had mild psychiatric and developmental deficits. CLINICAL REFLECTIONS: Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wide range of additional disease manifestations are known. A few patients with M-D have seizures. CLINICAL IMPLICATIONS: Altered neuronal excitability has been found in the pathogenesis of M-D. This may explain the partial effectiveness of antiepileptics and a lower seizure threshold, and could encourage trials of other membrane stabilisers. Careful clinical observations of seemingly well-known diseases remain important.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- DYT11
- myoclonus-dystonia
- phenotype
- SGCE
Publikations- och innehållstyp
- art (ämneskategori)
- vet (ämneskategori)
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