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m.3685T >C is a novel mitochondrial DNAvariant that causes Leigh syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006136
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- Article
Infantile Spasms: Hypothesis-Driven Therapy and Pilot Human Infant Experiments Using Corticotropin-Releasing Hormone Receptor Antagonists.
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- Developmental Neuroscience, 1999, v. 21, n. 3-5, p. 281, doi. 10.1159/000017407
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- Article
Comparison of Cosyntropin, Vigabatrin, and Combination Therapy in New-Onset Infantile Spasms in a Prospective Randomized Trial.
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- Journal of Child Neurology, 2022, v. 37, n. 3, p. 186, doi. 10.1177/08830738211073400
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- Article
Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy.
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- Molecular Brain, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13041-019-0509-5
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- Article
Stroke As a Late Sequela of Cranial Irradiation for Childhood Brain Tumors.
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- Journal of Child Neurology, 1991, v. 6, n. 2, p. 128, doi. 10.1177/088307389100600206
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- Article
Academic Underachievement in Children with Epilepsy.
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- Journal of Child Neurology, 1991, v. 6, n. 1, p. 65, doi. 10.1177/088307389100600114
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- Article
Reaction Time, Impulsivity, and Attention in Hyperactive Children and Controls: A Video Game Technique.
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- Journal of Child Neurology, 1990, v. 5, n. 3, p. 195, doi. 10.1177/088307389000500308
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- Article
Opsoclonus-Ataxia Due to Childhood Neural Crest Tumors: A Chronic Neurologic Syndrome.
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- Journal of Child Neurology, 1990, v. 5, n. 2, p. 153, doi. 10.1177/088307389000500217
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- Publication type:
- Article
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
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- Journal of Neurology, 2022, v. 269, n. 12, p. 6512, doi. 10.1007/s00415-022-11325-2
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- Article
Pharmacokinetics of Levetiracetam in Infants and Young Children with Epilepsy.
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- Epilepsia (Series 4), 2007, v. 48, n. 6, p. 1117, doi. 10.1111/j.1528-1167.2007.01090.x
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- Publication type:
- Article
Hemophilia Growth and Development Study: Relationships Between Neuropsychological, Neurological, and MRI Findings at Baseline.
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- Journal of Pediatric Psychology, 1998, v. 23, n. 1, p. 45, doi. 10.1093/jpepsy/23.1.45
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- Article
Treatment of pediatric chronic inflammatory demyelinating polyneuropathy: Challenges, controversies and questions.
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- Annals of Indian Academy of Neurology, 2015, v. 18, n. 3, p. 327, doi. 10.4103/0972-2327.160065
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- Publication type:
- Article
An Adolescent with Increased Plasma Methylmalonic Acid and Total Homocysteine.
- Published in:
- Clinical Chemistry, 2017, v. 63, n. 6, p. 1069, doi. 10.1373/clinchem.2016.260695
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- Publication type:
- Article
Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1304610
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- Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114
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- Article
Safety and tolerability of intravenous immunoglobulin infusion in Down syndrome regression disorder.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63524
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- Article
Possible Mitochondrial Dysfunction and Its Association with Antiretroviral Therapy Use in Children Perinatally Infected with HIV.
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- Journal of Infectious Diseases, 2010, v. 202, n. 2, p. 291, doi. 10.1086/653497
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- Publication type:
- Article
Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome.
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- Epilepsia (Series 4), 2019, v. 60, n. 9, p. 1881, doi. 10.1111/epi.16316
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- Article
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium.
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- Epilepsia (Series 4), 2015, v. 56, n. 4, p. 617, doi. 10.1111/epi.12951
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- Publication type:
- Article
Stable dosages of clobazam for Lennox- Gastaut syndrome are associated with sustained drop-seizure and total-seizure improvements over 3 years.
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- Epilepsia (Series 4), 2014, v. 55, n. 4, p. 558, doi. 10.1111/epi.12561
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- Article
Clobazam in the treatment of Lennox-Gastaut syndrome.
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- Epilepsia (Series 4), 2009, v. 50, n. 5, p. 1158, doi. 10.1111/j.1528-1167.2008.01935.x
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- Publication type:
- Article
A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.
- Published in:
- PLoS Genetics, 2016, v. 12, n. 4, p. 1, doi. 10.1371/journal.pgen.1005848
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- Publication type:
- Article
Effect of Increased Immunosuppression on Developmental Outcome of Opsoclonus Myoclonus Syndrome (OMS).
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- Journal of Child Neurology, 2015, v. 30, n. 8, p. 976, doi. 10.1177/0883073814549581
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- Publication type:
- Article
Assessment of Control in Typical Childhood Absence Epilepsy.
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- Journal of Child Neurology, 2013, v. 28, n. 5, p. 678, doi. 10.1177/0883073813481852
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- Article
Acute Cerebellar Ataxia, Acute Cerebellitis, and Opsoclonus-Myoclonus Syndrome.
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- Journal of Child Neurology, 2012, v. 27, n. 11, p. 1482, doi. 10.1177/0883073812450318
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- Publication type:
- Article
Active Comparator-Controlled, Rater-Blinded Study of Corticotropin-Based Immunotherapies for Opsoclonus-Myoclonus Syndrome.
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- Journal of Child Neurology, 2012, v. 27, n. 7, p. 875, doi. 10.1177/0883073811428816
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- Article
Clinical Associations of Occipital Intermittent Rhythmic Delta Activity.
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- Journal of Child Neurology, 2012, v. 27, n. 4, p. 503, doi. 10.1177/0883073811419256
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- Publication type:
- Article
Does One More Medication Help? Effect of Adding Another Anticonvulsant in Childhood Epilepsy.
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- Journal of Child Neurology, 2011, v. 26, n. 3, p. 329, doi. 10.1177/0883073810380916
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- Publication type:
- Article
Neurodevelopmental and Epilepsy Outcomes in a North American Cohort of Patients With Infantile Spasms.
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- Journal of Child Neurology, 2010, v. 25, n. 4, p. 423, doi. 10.1177/0883073809341664
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- Publication type:
- Article
Insights on Chronic-Relapsing Opsoclonus-Myoclonus From a Pilot Study of Mycophenolate Mofetil.
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- Journal of Child Neurology, 2009, v. 24, n. 3, p. 316, doi. 10.1177/0883073808324217
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- Article
Reviews of Infant Botulism at Childrens Hospital Los Angeles.
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- 2008
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- Publication type:
- Letter
Major Adverse Events Associated With Treatment of Infantile Spasms.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 12, p. 1360, doi. 10.1177/0883073807310988
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- Article
Infant Botulism: 20 Years' Experience at a Single Institution.
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- Journal of Child Neurology, 2007, v. 22, n. 12, p. 1333, doi. 10.1177/0883073807308707
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- Publication type:
- Article
Mitochondrial Disorders: A Potentially Under-recognized Etiology of Infantile Spasms.
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- Journal of Child Neurology, 2002, v. 17, n. 5, p. 369, doi. 10.1177/088307380201700511
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- Article
Status Epilepticus and Acute Serial Seizures in Children.
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- Journal of Child Neurology, 2002, v. 17, p. S36, doi. 10.1177/08830738020170010501
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- Publication type:
- Article
Cognitive and Behavioral Effects of Carbamazepine in Children: Data From Benign Rolandic Epilepsy.
- Published in:
- Journal of Child Neurology, 1999, v. 14, n. 11, p. 716
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- Publication type:
- Article