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Published in 2020 at "Brain"
DOI: 10.1093/brain/awaa290
Abstract: In their letter, von Hardenberg et al. (2020) describe a female infant with mild malformations and neonatal onset seizures with a burst-suppression pattern on EEG, in whom they identified a novel homozygous splice-site variant in…
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Keywords:
von hardenberg;
ketogenic diet;
vigabatrin;
hardenberg 2020 ... See more keywords