Found: 24
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Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 587, doi. 10.1093/brain/awac274
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- Article
Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.
- Published in:
- 2016
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- Publication type:
- journal article
"Don't Throw the Baby out with the Bathwater".
- Published in:
- Annals of Neurology, 2024, v. 95, n. 4, p. 823, doi. 10.1002/ana.26889
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- Publication type:
- Article
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
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- Annals of Neurology, 2022, v. 92, n. 1, p. 122, doi. 10.1002/ana.26366
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- Article
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
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- Article
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
- Published in:
- Nature Genetics, 2013, v. 45, n. 7, p. 825, doi. 10.1038/ng.2646
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- Article
Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.
- Published in:
- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03454-1
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- Article
Parental health spillover effects of paediatric rare genetic conditions.
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- Quality of Life Research, 2020, v. 29, n. 9, p. 2445, doi. 10.1007/s11136-020-02497-3
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- Publication type:
- Article
Anesthetic considerations in Dravet syndrome.
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- Pediatric Anesthesia, 2022, v. 32, n. 10, p. 1166, doi. 10.1111/pan.14525
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- Publication type:
- Article
De novo mutations in epileptic encephalopathies.
- Published in:
- Nature, 2013, v. 501, n. 7466, p. 217, doi. 10.1038/nature12439
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- Publication type:
- Article
Targets of antibodies against Plasmodium falciparum-infected erythrocytes in malaria immunity.
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- Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3227, doi. 10.1172/JCI62182
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- Publication type:
- Article
Response to sequential treatment with prednisolone and vigabatrin in infantile spasms.
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- Journal of Paediatrics & Child Health, 2022, v. 58, n. 12, p. 2197, doi. 10.1111/jpc.16181
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- Publication type:
- Article
Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention.
- Published in:
- 2016
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- Publication type:
- journal article
High resolution chromosomal microarray in undiagnosed neurological disorders.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
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- Publication type:
- Article
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 1, p. 50, doi. 10.1111/dmcn.15308
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- Publication type:
- Article
Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment.
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- Developmental Medicine & Child Neurology, 2014, v. 56, n. 5, p. 498, doi. 10.1111/dmcn.12346
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- Publication type:
- Article
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
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- Epilepsia Open, 2019, v. 4, n. 3, p. 504, doi. 10.1002/epi4.12350
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- Article
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 77, doi. 10.1002/ajmg.a.36203
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- Publication type:
- Article
The severe epilepsy syndromes of infancy: A population‐based study.
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- Epilepsia (Series 4), 2021, v. 62, n. 2, p. 358, doi. 10.1111/epi.16810
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- Publication type:
- Article
A population‐based cost‐effectiveness study of early genetic testing in severe epilepsies of infancy.
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- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1177, doi. 10.1111/epi.14087
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- Publication type:
- Article
Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept.
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- Epilepsia (Series 4), 2016, v. 57, n. 3, p. 343, doi. 10.1111/epi.13306
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- Publication type:
- Article
Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children.
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- Epilepsia (Series 4), 2012, v. 53, n. 7, p. e122, doi. 10.1111/j.1528-1167.2012.03494.x
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- Publication type:
- Article
Long-term follow-up of febrile infection-related epilepsy syndrome.
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- Epilepsia (Series 4), 2012, v. 53, n. 1, p. 101, doi. 10.1111/j.1528-1167.2011.03350.x
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- Publication type:
- Article
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
- Published in:
- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 203, doi. 10.1002/mgg3.133
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- Publication type:
- Article