Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.

Background And Objectives: Isolated paroxysmal kinesigenic dyskinesia (PKD) is mainly caused by variants and variants. Patients with proximal 16p11.2 microdeletion (16p11.

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Aims: PRRT2 variants are associated with various paroxysmal disorders. To date, more than 90 PRRT2 variants have been reported in PRRT2-related disorders. Lack of functional study in majority of missense variants makes their pathogenicity uncertain.

Clinical features of Chinese patients with Gerstmann-Sträussler-Scheinker identified by targeted next-generation sequencing.

Gerstmann-Sträussler-Scheinker (GSS) is an autosomal dominant neurodegenerative disease due to mutations within prion protein (PRNP) gene. Clinically, it is not easy to distinguish GSS from spinocerebellar ataxia (SCA), especially in the early stage of disease. We aimed to identify genetic mutations in 8 Chinese pedigrees with dominant ataxia but excluded dynamic mutations of SCA genes.

Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.

Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype-phenotype correlations in many CMT patients make it difficult to decide which genes are affected.

[Spatiotemporal expression pattern of E-cadherin and P-cadherin during mouse tooth development].

Objective: To investigate the expression patterns of E-cadherin and P-cadherin in murine-tooth germs at early developmental stages.

Methods: Mandible samples of CD1 mice from embryonic day 12.5 to postnatal day 3.