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Concurrent Thalamic and Cerebellar Involvement in Pediatric Neuropsychiatric Lupus: Expanding the Radiologic Spectrum
The report details a 13-year-old patient with newly diagnosed SLE who developed neuropsychiatric SLE (NP-SLE) – presenting with acute cerebellar dysfunction, impaired consciousness and nonconvulsive status epilepticus – despite initially atypical neuroimaging.
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Expanding the Clinical Spectrum of LYRM7-Associated Mitochondrial Complex III Deficiency: Insights from New Cases and Literature Review
This peer-reviewed case series examines LYRM7-associated mitochondrial complex III (CIII) deficiency, a rare and typically neurodegenerative mitochondrial disorder, expanding its known phenotypic spectrum through two newly described cases and a literature review.
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A Real-World Evidence Study on U.S. Patients Demonstrating Safety of High-Frequency Use of the Remote Electrical Neuromodulation (REN) Wearable Device for Migraine Treatment
This real-world observational study evaluates the safety and tolerability of remote electrical neuromodulation (REN; Nerivio®) in patients who have utilized it more frequently than the current label indication for migraine treatment.
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Molecular and Clinical Spectrum of Epilepsy-Dyskinesia Syndromes: A Cross-Sectional Study of 609 Patients
Epilepsy-dyskinesia syndromes (EDS) represent a clinically complex group of neurogenetic disorders defined by overlapping seizure activity and movement disorders
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Advancing Precision Medicine for Pediatric Brain and Spinal Cord Tumors
Advances in molecular diagnostics are changing how clinicians diagnose and treat pediatric brain and spinal cord tumors.
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Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant
This peer-reviewed study expands recognition of a distinct, autosomal-dominant neurodevelopmental disorder caused by a recurrent de novo FBXO31 p.Asp334Asn variant.
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International Consensus on the Evaluation and Management of Hypothalamic Hamartomas: Results From a Modified Delphi Survey
Hypothalamic hamartomas (HH) are rare developmental brain lesions frequently associated with medically refractory epilepsy and complex neurobehavioral, cognitive and endocrine comorbidities.
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De Novo Variants in the Splicing Factor Gene SF3B1 Are Associated with Neurodevelopmental Disorders
Constitutional variants in the splicing factor SF3B1 have been linked to neurodevelopmental disorders for the first time, according to a new multinational study co-authored by Phoenix Children’s Pediatric Neurologist and Neurogeneticist Michael Kruer, MD, et al.
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American Epilepsy Society Clinical Practice Guideline: Infantile Epilepsy
This American Epilepsy Society (AES) practice guideline provides updated, evidence-based recommendations for the management of epilepsy in infants and children aged 1 month to <36 months.
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Phoenix Children’s Joins First Controlled Clinical Trial of Genetic Therapy for Dravet Syndrome
The first controlled phase 3 trial of a genetic therapy for Dravet syndrome is now underway – with Phoenix Children's as one of 28 sites nationwide.
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Pediatric Bowhunter Syndrome: What Do We Know?
Bowhunter syndrome (BHS) is a rare but important cause of posterior circulation stroke in children, resulting from vertebral artery compression during head rotation.
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Arteriovenous Malformations in Children: A Pediatric Neurosurgeons Perspective
This Neuroscience Grand Rounds session, led by Muhammad Osama, MD, provides a pediatric neurosurgeon’s perspective on arteriovenous malformations (AVMs) in children, rare but high-risk vascular lesions that can lead to seizures, neurological deficits, or life-threatening hemorrhage.