ArticleJournal of medical case reports2016
Focal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation: a case report.
Article in Journal of medical case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Role of voltage-gated chloride channels in epilepsy: current insights and future directions.Frontiers in pharmacology · 2025Review
- A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and PremutatedFrontiers in genetics · 2021Article
- Myotonic dystrophy type 2: the 2020 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Skeletal muscle ClC-1 chloride channels in health and diseases.Pflugers Archiv : European journal of physiology · 2020Review
- Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.Neurogenetics · 2017Article
- Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Review
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMyotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms. Seizures are not a commonly associated neurological feature of this disorder. CASE PRESENTATION: A 57-year-old white American man presented with a long history of clinical and electrophysiological features of a myotonic disorder. He also developed multiple episodes of focal seizures and underwent a series of investigations which showed no structural or metabolic etiology. Genetic testing revealed that he had an expansion mutation in CCHC-type zinc finger, nucleic acid binding protein gene confirming the diagnosis of myotonic disorder type 2 and carried a mutation in the chloride voltage-gated channel 1 gene.
conclusionsWe report a rare association between myotonic dystrophy type 2 and a seizure disorder. The pathophysiology of a possible relationship between these two neurological conditions is discussed.
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