Artikel ; Online: A
2016 Band 54, Heft 3, Seite(n) 202–211
Abstract: Background: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with ... ...
| Abstract | Background: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes are associated with EMEs that have metabolic features. Here, we report a pathogenic mutation of an ion channel as a cause of EME for the first time. Methods: Sequencing was performed for 214 patients with epileptic seizures using a gene panel with 109 genes that are known or suspected to cause epileptic seizures. Functional assessments were demonstrated by using electrophysiological experiments and immunostaining for mutant γ-aminobutyric acid-A (GABA Results: We discovered a Conclusion: This mutation has complex functional effects on GABA |
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| Mesh-Begriff(e) | Brain/diagnostic imaging ; Brain/physiopathology ; Crystallography, X-Ray ; Electroencephalography ; HEK293 Cells ; Humans ; Infant ; Male ; Models, Molecular ; Mutation, Missense ; Opsoclonus-Myoclonus Syndrome/genetics ; Opsoclonus-Myoclonus Syndrome/physiopathology ; Receptors, GABA-A/chemistry ; Receptors, GABA-A/genetics ; Seizures/genetics ; Seizures/physiopathology ; Spasms, Infantile/genetics ; Spasms, Infantile/physiopathology |
| Chemische Substanzen | GABRB2 protein, human ; Receptors, GABA-A |
| Sprache | Englisch |
| Erscheinungsdatum | 2016-10-27 |
| Erscheinungsland | England |
| Dokumenttyp | Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 220881-7 |
| ISSN | 1468-6244 ; 0022-2593 |
| ISSN (online) | 1468-6244 |
| ISSN | 0022-2593 |
| DOI | 10.1136/jmedgenet-2016-104083 |
| Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
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