Qing-xia Y. Kong
Jinan, China
Last Updated: 09/26/2026
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Found 25 publications
Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a de novo c.6640dupA shift mutation and a splice variant with an epilepsy phenotype.
Journal: Frontiers in neuroscience
Published: April 02, 2025
A GABRB3 mutation (c.5G>A, p.Trp2*) in twins with generalized epilepsy with febrile seizures: A case report.
Journal: Experimental and therapeutic medicine
Published: February 04, 2024
Application of Mendelian Randomization Analysis on the Exploration of the Association Between Immune Cell Phenotypes and Alzheimer's disease.
Journal: The Journal of nervous and mental disease
Published: January 10, 2024
Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review.
Journal: Frontiers in pediatrics
Published: January 08, 2024
Eukaryotic translation initiation factor EIF4G1 p.Ser637Cys mutation in a family with Parkinson's disease with antecedent essential tremor.
Journal: Experimental and therapeutic medicine
Published: September 25, 2023
Electroencephalogram findings in 10 patients with post-stroke epilepsy: A retrospective study.
Journal: World journal of clinical cases
Published: September 19, 2023
Advances in Neuroimaging and Multiple Post-Processing Techniques for Epileptogenic Zone Detection of Drug-Resistant Epilepsy.
Journal: Journal of magnetic resonance imaging : JMRI
Published: September 05, 2023
Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7: A case report.
Journal: World journal of clinical cases
Published: June 30, 2023
Application value of multimodal MRI combined with PET metabolic parameters in temporal lobe epilepsy with dual pathology.
Journal: European journal of radiology
Published: March 30, 2023
Seizure Outcome After Surgery for Refractory Epilepsy Diagnosed by 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET/MRI): A Systematic Review and Meta-Analysis.
Journal: World neurosurgery
Published: December 04, 2022
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
Journal: Molecular medicine reports
Published: September 04, 2022
Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report.
Journal: World journal of clinical cases
Published: May 29, 2022
Last Updated: 09/26/2026