Clinical features and genetic analysis of developmental and epileptic encephalopathy caused by biallelic variants of CACNA1B
Objective: To analyze the clinical features and genetic etiology of a patient with developmental and epileptic encephalopathy. Methods: The clinical information and peripheral blood of the patient and their family members were collected before the whole exome sequencing analysis was performed and Sa...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2024-06-01
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| Col·lecció: | Heliyon |
| Matèries: | |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S2405844024087243 |
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