These programs include support for pre-clinical, translational, and clinical research into basic CDKL5 biology, CDD disease mechanisms, and the proof-of- concept studies for gene therapy and genome modifying therapeutics. About STXBP1-Related Disorder STXBP1-RD is a rare neurodevelopmental disorder ...
ObjectiveTo assess how improved recognition of the distinctive aEEG ictal pattern associated with KCNQ2/3 variants has enabled early and effective targeted therapy with CBZ. MethodsRetrospective descriptive study of five neonates with KCNQ2/3 pathogenic gene variants admitted at a level 3 neonatal ...
4.De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.[J].Okada I;Uruno K;Kato M;Tohyama J;Mizuguchi T;Hamada K;Osaka H;Hirai S;Yoshimura Y;Ogata K;Kumada T;Fukuda A;Nishimura A;Matsumoto N;Hayasaka K;Kumada S;Saitsu H;...
Given these data, the patient started treatment with gabapentin, showing a rapid and sustained clinical and EEG improvement over the following months. Overall, these results suggest that gabapentin can be regarded as a precision therapy for DEEs due to KCNQ2 loss-of-function mutations. Graphical ...
Alternatively, the KCNQ2 gene and/or KCNQ3 gene of an individual to be tested can be screened for mutations which cause BFNC. Prediction of BFNC will enable practitioners to prevent this disorder using existing medical therapy. Furthermore, a mutation in KCNQ2 has been found which is ...
In depth molecular, functional and clinical analysis elucidated several new findings: a) intronic mutation in our patients did affect transcriptional aberration, but 10% of KCNQ1 gene still could escape aberrant transcription, which could effectively rescue the hearing in our patients, but not the ...
was interaction between genotypes and the therapy of glaclizide (P=0.0466). The difference of FPG levels, the change of FPG or blood glucose at OGTT 2-h among patients with various genetypes were not statistically significant (P>0.05). ...
Thus, therapeutic attempts would need to increase gene expression of the intact allele with a simultaneous knockdown of the mutant allele.Taken together, the results of Falsaperla et al underline the urgent need for further development and introduction of precision-based therapies for KCNQ2-NEO-DEE...
Mutations in the KCNQ2 gene encoding KV7.2 subunit that mediates neuronal M-current cause a severe form of developmental and epileptic encephalopathy (DEE). Electrophysiological evaluation of KCNQ2 mutations has been proved clinically useful in improving outcome prediction and choosing rational anti-...