[Phenotype of infantile epileptic spasm syndrome in pyridoxin-dependent epilepsy].

Objective: To analyze the clinical diagnosis, treatment, and prognosis of the patients with pyridoxine-dependent epilepsy (PDE) characterized by infantile epileptic spasm syndrome (IESS).

Methods: A total of 75 PDE patients with variants were diagnosed at the Department of Pediatrics of Peking University First Hospital and Peking University People's Hospital from July 2012 to June 2024, and five PDE patients with the phenotype of IESS were selected. The clinical manifestations, treatment, blood biochemistry, metabolic screening, electroencephalogram (EEG), brain magnetic resonance imaging (MRI), and gene testing results of the five PDE patients were analyzed.

A generalized seizure type: Myoclonic-to-tonic seizure.

Background And Purpose: To test the hypothesis that myoclonic seizures can evolve to tonic seizures, we documented the electroclinical features of this under-recognized seizure type.

Methods: We observed a distinct seizure pattern starting with myoclonus without returning to an interictal state, which subsequently evolved into generalized tonic seizures. The detailed symptomatic and electroencephalographic characteristics of this seizure were extracted, and the clinical manifestations, drug curative responses in patients with this seizure were reviewed and analyzed.

Genotype and phenotype correlation of -related neurological disorders.

Background: PHACTR1 (phosphatase and actin regulators) plays a key role in cortical migration and synaptic activity by binding and regulating G-actin and PPP1CA. This study aimed to expand the genotype and phenotype of patients with variants in and analyse the impact of variants on protein-protein interaction.

Methods: We identified seven patients with variants by trio-based whole-exome sequencing.

Electroclinical Features and Long-Term Photosensitivity Outcome in Patients With Photoparoxysmal Response With Epilepsy.

Background: To investigate electroclinical phenotypes and long-term photosensitivity outcome in a large pediatric cohort of patients with epilepsy with photosensitivity.

Methods: Patients with epilepsy with photosensitivity with four or more years of follow-up were included. Sustained terminal remission (STR) of photosensitivity (≥3.

MicroRNAs: protective regulators for neuron growth and development.

MicroRNAs (miRNAs) play an important regulatory role in neuronal growth and development. Different miRNAs target different genes to protect neurons in different ways, such as by avoiding apoptosis, preventing degeneration mediated by conditional mediators, preventing neuronal loss, weakening certain neurotoxic mechanisms, avoiding damage to neurons, and reducing inflammatory damage to them. The high expression of miRNAs in the brain has significantly facilitated their development as protective targets for therapy, including neuroprotection and neuronal recovery.

IL-17A Mediates Demyelination by Activating A1 Astrocytes SOCS3 During Infection.

Background: Demyelinating disease of the central nervous system is one of the most common neurological diseases and effective treatment is still under in-depth research. Our previous study showed that infection can induce demyelination injury in mouse brains and IL-17A expression was shown to be significantly increased during this process. Moreover, we found that IL-17A inhibition attenuated the demyelination caused by infection.

Interleukin 17A Derived from γδ T Cell Induces Demyelination of the Brain in Angiostrongylus cantonensis Infection.

Angiostrongylus cantonensis infection is a typical cause of eosinophilic encephalitis (EM), which has been reported to induce serious damage in the central nervous system. Both parasite and host factors contribute to the onset of EM, but the related immune-inflammation pathogenesis remains poorly characterised. An A.

BALB/c mice infected with Angiostrongylus cantonensis: A new model for demyelination in the brain.

In this study, we present a new model for demyelination of the central nervous system (CNS). BALB/c mice were infected with Angiostrongylus cantonensis and analyzed 7, 14, and 21 days postinfection. Neurological scale evaluation, magnetic resonance imaging (MRI), histology, real-time quantitative polymerase chain reaction, and western blotting were all performed on days 7, 14, and 21.

A Meta-Analytic Review of the Value of miRNA for Multiple Sclerosis Diagnosis.

Multiple sclerosis (MS) is an immune-mediated chronic inflammatory demyelinating disease of the central nervous system. The etiology of MS is unclear, disease diagnosis mainly based on symptoms, and lacks effective laboratory test index. Circulating microRNAs (miRNAs) as sensitive biomarkers have been widely studied, the expression levels of certain miRNAs are dynamically changed in MS patients.

Tanshinone IIA attenuates demyelination and promotes remyelination in -infected BALB/c mice.

Background: infection can cause demyelination in the central nervous system, and there is no effective treatment.

Methods: We used dexamethasone, Tanshinone IIA (TSIIA) and Cryptotanshinone(Two traditional Chinese medicine monomers) in combination with albendazole (AB, a standard anti-helminthic compound) to observe their therapeutic effect on demyelination in -infected mice. Luxol fast blue staining and electron microscope of myelin sheath, Oligodendrocyte (OL) number and myelin basic protein (MBP) expression in brain was detected in above groups.

IL-17A neutralizing antibody attenuates eosinophilic meningitis caused by Angiostrongylus cantonensis by involving IL-17RA/Traf6/NF-κB signaling.

Background: Angiostrongylus cantonensis (A. cantonensis) is a foodborne parasite that can invade the central nervous system (CNS), resulting in eosinophilic meningitis (EM). However, the mechanism by which A.