Refractory Seizures in a Neonate with a Rare Coexistence of Variants in Both ALDH7A1 and RHOBTB2 Genes
Background: Pyridoxine-dependent epilepsy due to ALDH7A1 gene mutation is a known, but rare autosomal recessive disorder, presenting with early-onset, refractory seizures. Also, mutations in the RHOBTB2 gene are responsible for a rare developmental and epileptic encephalopathy 64 disorder. We report...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
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Wolters Kluwer Medknow Publications
2026-01-01
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| Cyfres: | Indian Pediatrics Case Reports |
| Pynciau: | |
| Mynediad Ar-lein: | https://journals.lww.com/10.4103/ipcares.ipcares_141_25 |
| Tagiau: |
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