Academic Journal
Familial cortical tremor with epilepsy and cerebellar pathological findings
| Τίτλος: | Familial cortical tremor with epilepsy and cerebellar pathological findings |
|---|---|
| Συγγραφείς: | van Rootselaar, AF, Aronica, E, Steur, ENHJ, Rozemuller-Kwakkel, JM, de Vos, RAI, Tijssen, MAJ |
| Πηγή: | van Rootselaar, AF, Aronica, E, Steur, ENHJ, Rozemuller-Kwakkel, JM, de Vos, RAI & Tijssen, MAJ 2004, 'Familial cortical tremor with epilepsy and cerebellar pathological findings', Movement Disorders, vol. 19, no. 2, pp. 213-217. https://doi.org/10.1002/mds.10662 |
| Έτος έκδοσης: | 2004 |
| Συλλογή: | University of Groningen research database |
| Θεματικοί όροι: | cortical tremor, myoclonus, epilepsy, neuropathology, ATAXIA TYPE 6, MYOCLONIC EPILEPSY, PURKINJE-CELL, CHROMOSOME 8Q23.3-Q24.1, LINKAGE, GENE, LOCALIZATION, ATROPHY, VARIANT, GOLGI |
| Περιγραφή: | The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6. (C) 2003 Movement Disorder Society |
| Τύπος εγγράφου: | article in journal/newspaper |
| Γλώσσα: | English |
| ISSN: | 0885-3185 |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/000189160700013; info:eu-repo/semantics/altIdentifier/hdl/https://hdl.handle.net/11370/0e27bdc4-8035-4dad-9239-a4a620df0b0f; info:eu-repo/semantics/altIdentifier/pissn/0885-3185 |
| DOI: | 10.1002/mds.10662 |
| Διαθεσιμότητα: | https://hdl.handle.net/11370/0e27bdc4-8035-4dad-9239-a4a620df0b0f https://research.rug.nl/en/publications/0e27bdc4-8035-4dad-9239-a4a620df0b0f https://doi.org/10.1002/mds.10662 |
| Rights: | info:eu-repo/semantics/restrictedAccess |
| Αριθμός Καταχώρησης: | edsbas.FF10C06C |
| Βάση Δεδομένων: | BASE |
| ISSN: | 08853185 |
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| DOI: | 10.1002/mds.10662 |