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The Dysfunctional Gangway: SZT2-associated Epilepsy with Thick Corpus Callosum
Mutations in seizure threshold 2 (SZT2) gene on chromosome 1p34.2 are an of late identified cause of epilepsy and epileptic encephalopathy. We report a 3-year-old girl who presented with developmental delay, dysmorphic facies, refractory seizures, and subsequent developmental regression. Despite sig...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757505/ https://www.ncbi.nlm.nih.gov/pubmed/36531768 http://dx.doi.org/10.4103/jpn.JPN_128_20 |