Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature
Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to p...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | Epilepsy & Behavior Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S258998642300045X |
| _version_ | 1797400835475374080 |
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| author | Michał Sobstyl Nina Kożuch Magdalena Iwaniuk-Gugała Angelika Stapińska-Syniec Magdalena Konopko Paweł Jezierski |
| author_facet | Michał Sobstyl Nina Kożuch Magdalena Iwaniuk-Gugała Angelika Stapińska-Syniec Magdalena Konopko Paweł Jezierski |
| author_sort | Michał Sobstyl |
| collection | DOAJ |
| description | Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4–5 years, the patient had been suffering from intention tremor, and later the myoclonic jerks, ataxia involving the upper limbs and walking difficulties worsened. The first bilateral tonic-clonic seizure (BTCS) occurred at the age of 22. The patient agreed to staged bilateral implantation of DBS electrodes placed in the STN/SNr region. The follow-up lasts more than 24 months. The myoclonic jerks assessed by Unified Myoclonus Rating Scale (UMRS) were reduced by nearly 70 % and BTCS was completely abolished. The patient’s ataxia and dysarthria did not improve. Early diagnosis with genetic testing may significantly help in counseling patients with PME and enables to undertake the surgical approach targeting the STN/SNr. |
| first_indexed | 2024-03-09T02:01:23Z |
| format | Article |
| id | doaj.art-03ebd3659f624f84989d8c926f0bcfdb |
| institution | Directory Open Access Journal |
| issn | 2589-9864 |
| language | English |
| last_indexed | 2024-03-09T02:01:23Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Epilepsy & Behavior Reports |
| spelling | doaj.art-03ebd3659f624f84989d8c926f0bcfdb2023-12-08T04:45:52ZengElsevierEpilepsy & Behavior Reports2589-98642023-01-0124100627Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literatureMichał Sobstyl0Nina Kożuch1Magdalena Iwaniuk-Gugała2Angelika Stapińska-Syniec3Magdalena Konopko4Paweł Jezierski5Department of Neurosurgery, Institute of Psychiatry and Neurology, Sobieskiego 9 Street 02-957, Warsaw, Poland1st Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957 Warsaw, Poland1st Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957 Warsaw, PolandDepartment of Neurosurgery, Institute of Psychiatry and Neurology, Sobieskiego 9 Street 02-957, Warsaw, Poland; Corresponding author.1st Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957 Warsaw, Poland1st Department of Neurology, Institute of Psychiatry and Neurology, Sobieskiego 9 Street, 02-957 Warsaw, PolandProgressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4–5 years, the patient had been suffering from intention tremor, and later the myoclonic jerks, ataxia involving the upper limbs and walking difficulties worsened. The first bilateral tonic-clonic seizure (BTCS) occurred at the age of 22. The patient agreed to staged bilateral implantation of DBS electrodes placed in the STN/SNr region. The follow-up lasts more than 24 months. The myoclonic jerks assessed by Unified Myoclonus Rating Scale (UMRS) were reduced by nearly 70 % and BTCS was completely abolished. The patient’s ataxia and dysarthria did not improve. Early diagnosis with genetic testing may significantly help in counseling patients with PME and enables to undertake the surgical approach targeting the STN/SNr.http://www.sciencedirect.com/science/article/pii/S258998642300045XDeep brain stimulationProgressive myoclonic epilepsyMyoclonic jerksSubthalamic nucleusSubstantia nigra pars reticulata |
| spellingShingle | Michał Sobstyl Nina Kożuch Magdalena Iwaniuk-Gugała Angelika Stapińska-Syniec Magdalena Konopko Paweł Jezierski Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature Epilepsy & Behavior Reports Deep brain stimulation Progressive myoclonic epilepsy Myoclonic jerks Subthalamic nucleus Substantia nigra pars reticulata |
| title | Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature |
| title_full | Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature |
| title_fullStr | Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature |
| title_full_unstemmed | Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature |
| title_short | Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature |
| title_sort | deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation meak a case report and review of the literature |
| topic | Deep brain stimulation Progressive myoclonic epilepsy Myoclonic jerks Subthalamic nucleus Substantia nigra pars reticulata |
| url | http://www.sciencedirect.com/science/article/pii/S258998642300045X |
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