Works matching AU Stipa, Carlotta
Results: 8
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.
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- Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2311
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- Article
Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
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- Clinical Genetics, 2020, v. 98, n. 5, p. 477, doi. 10.1111/cge.13823
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- Article
The Impact of the COVID-19 Pandemic on People With Epilepsy. An Italian Survey and a Global Perspective.
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.613719
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- Article
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
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- BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-116
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- Article
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
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- 2014
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- journal article
Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy.
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- Epilepsia (Series 4), 2018, v. 59, n. 7, p. e103, doi. 10.1111/epi.14446
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- Article
Epilepsy with auditory features: Long‐term outcome and predictors of terminal remission.
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- Epilepsia (Series 4), 2018, v. 59, n. 4, p. 834, doi. 10.1111/epi.14033
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- Article
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
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- Epilepsia (Series 4), 2014, v. 55, n. 6, p. 841, doi. 10.1111/epi.12560
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- Article