Found: 14
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Rethinking status dystonicus: A welcome start to a challenging problem.
- Published in:
- 2018
- By:
- Publication type:
- letter
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 609, p. 1, doi. 10.1126/scitranslmed.aaz4957
- By:
- Publication type:
- Article
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4233, doi. 10.1093/brain/awad153
- By:
- Publication type:
- Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Idiopathic Ventricular Tachycardia in a Newborn: Immediate Response to Lidocaine.
- Published in:
- Pediatric Cardiology, 2011, v. 32, n. 5, p. 706, doi. 10.1007/s00246-011-9947-2
- By:
- Publication type:
- Article
Identification of a novel cystic fibrosis mutation in three patients of South Asian descent.
- Published in:
- Clinical Respiratory Journal, 2020, v. 14, n. 6, p. 586, doi. 10.1111/crj.13163
- By:
- Publication type:
- Article
Response to treatment and outcomes of infantile spasms in Down syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 6, p. 780, doi. 10.1111/dmcn.15153
- By:
- Publication type:
- Article
Status dystonicus: a practice guide.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 2, p. 105, doi. 10.1111/dmcn.12339
- By:
- Publication type:
- Article
De novo interstitial deletion 2q14.1q22.1: Is there a recognizable phenotype?
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3194, doi. 10.1002/ajmg.a.36786
- By:
- Publication type:
- Article
Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1863, doi. 10.1002/ajmg.a.36532
- By:
- Publication type:
- Article
Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1301, doi. 10.1111/epi.13794
- By:
- Publication type:
- Article
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 1, p. e12, doi. 10.1111/epi.13250
- By:
- Publication type:
- Article
The variable phenotypes of KCNQ-related epilepsy.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 9, p. e99, doi. 10.1111/epi.12715
- By:
- Publication type:
- Article
Neck-Tongue Syndrome: An Underrecognized Childhood Onset Cephalalgia.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 5, p. 347, doi. 10.1177/0883073818756681
- By:
- Publication type:
- Article