Last Updated: 09/26/2026
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Found 18 publications
Primary angiitis of the central nervous system.
Journal: Current opinion in immunology
Published: April 14, 2025
Posterior reversible encephalopathy syndrome and autoimmunity.
Journal: Autoimmunity reviews
Published: November 21, 2022
Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.
Journal: Annals of clinical and translational neurology
Published: June 01, 2019
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood-Expanding the Phenotype of a Recently Reported Condition.
Journal: Neuropediatrics
Published: January 17, 2019
Mitochondrial Disorders of the Nervous System: A Review.
Journal: Clinical pediatrics
Published: January 05, 2019
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.
Journal: The Journal of biological chemistry
Published: February 22, 2018
Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss.
Journal: Neurology
Published: February 15, 2018
Expanding the neurodevelopmental phenotype of PURA syndrome.
Journal: American journal of medical genetics. Part A
Published: June 15, 2017
Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation.
Journal: Pediatrics
Published: May 18, 2017
Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype.
Journal: Movement disorders clinical practice
Published: April 10, 2017
Sibling response to initial antiepileptic medication predicts treatment success.
Journal: Epilepsy research
Published: April 08, 2017
Last Updated: 09/26/2026