Clinical Presentation and Symptoms Phosphoribosylformylglycinamidine synthase (PFAS) deficiency presents a complex array of clinical symptoms …
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clinical symptoms
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Functional neurological disorders
Immune inflammatory regulation in Anti-NMDAR encephalitis: insights from transcriptome analysis
by myneuronewsby myneuronewsImmune Mechanisms in Anti-NMDAR Encephalitis Anti-NMDAR encephalitis is characterized by the presence of antibodies that …
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Functional neurological disorders
Biochemical investigation of pathogenic missense mutations of human 4-amino butyrate aminotransferase towards the understanding of the molecular pathogenesis of GABA transaminase deficiency
by myneuronewsby myneuronewsBiochemical Characterization of Mutant 4-Aminobutyrate Aminotransferase In this detailed study, researchers focused on the biochemical …
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Functional neurological disorders
Comprehensive Neuropsychological Assessment of Confirmed Xeroderma Pigmentosum a Variant with Neurological Manifestations: Case Report
by myneuronewsby myneuronewsClinical Presentation and Symptoms The case of a patient with xeroderma pigmentosum (XP) confirmed the …
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Functional neurological disorders
Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology
by myneuronewsby myneuronewsNeurodevelopmental Variants and Penetrance Neurodevelopmental copy number variants (CNVs) represent significant alterations in an individual’s …
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Functional neurological disorders
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2
by myneuronewsby myneuronewsBackground of Ataxia with Oculomotor Apraxia Type 2 Ataxia with oculomotor apraxia type 2 (AOA2) …
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Functional neurological disorders
Alterations of White Matter Functional Networks in Pediatric Drug-Resistant Temporal Lobe Epilepsy: A Graph Theory Analysis Study
by myneuronewsby myneuronewsAlterations in White Matter Networks The study of white matter networks in pediatric patients suffering …
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Movement Disorders
EFNB3 Frameshift Variant in Weimaraner Dogs with a Condition Resembling a Congenital Mirror Movement Disorder
by myneuronewsby myneuronewsGenetic Background of EFNB3 The EFNB3 gene encodes a protein belonging to the ephrin family, …
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Functional neurological disorders
Aggressive and Refractory Attack of AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder Treated With Ravulizumab: A Case Report
by myneuronewsby myneuronewsClinical Presentation and Diagnosis In this case report, the patient presented with symptoms characteristic of …
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Functional neurological disorders
HSD17B1-mediated trophoblast differentiation lowers estrogen levels in early-onset preeclampsia
by myneuronewsby myneuronewsHSD17B1 Role in Trophoblast Differentiation The study of HSD17B1 (Hydroxysteroid Dehydrogenase Type 1) highlights its …