Clinical phenotypes of TBC1D24 gene related epilepsy
Objective: To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. Methods: All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, a...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 56(2018), 9 vom: 02. Sept., Seite 667-673
|
|---|
| 1. Verfasser: |
Zhang, J
(VerfasserIn) |
|---|
| Weitere Verfasser: |
Zhang, Y H,
Chen, J Y,
Zhang, L P,
Zeng, Q,
Tian, X J,
Yang, Z X,
Wu, Y,
Yang, X L,
Wu, X R |
|---|
| Format: | Online-Aufsatz
|
|---|
| Sprache: | Chinese |
|---|
| Veröffentlicht: |
2018
|
|---|
| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
|
|---|
| Schlagworte: | Journal Article
Epilepsy
Genes
Hearing disorders
Myoclonus
TBC1D24
Carrier Proteins
GTPase-Activating Proteins
Membrane Proteins
Nerve Tissue Proteins
TBC1D24 protein, human |
|---|