NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.

Autor: Szalai, Renata¹ (AUTHOR) szalai.renata@pte.hu, Hadzsiev, Kinga¹ (AUTHOR) hadzsiev.kinga@pte.hu, Till, Agnes¹ (AUTHOR) till.agnes@pte.hu, Fogarasi, Andras^2,3 (AUTHOR) fogarasi.andras@bethesda.hu, Bodo, Timea² (AUTHOR) bodo.timea@bethesda.hu, Buki, Gergely¹ (AUTHOR) buki.gergely@pte.hu, Banfai, Zsolt¹ (AUTHOR) banfai.zsolt@pte.hu, Bene, Judit¹ (AUTHOR) bene.judit@pte.hu

Publikováno v: International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5732. 12p.

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Correction: Whole-Genome Sequencing Among Kazakhstani Children with Early-Onset Epilepsy Revealed New Gene Variants and Phenotypic Variability.

Autor: Bayanova M; University Medical Center CF, Kerey-Zhanibek Handar St. 5/1, Z05P3Y4, Astana, Kazakhstan., Bolatov AK; University Medical Center CF, Kerey-Zhanibek Handar St. 5/1, Z05P3Y4, Astana, Kazakhstan. bolatovaidos@gmail.com.; Astana Medical University, Beybitshilik St. 49A, Z10K9D9, Astana, Kazakhstan. bolatovaidos@gmail.com., Bazenova A; University Medical Center CF, Kerey-Zhanibek Handar St. 5/1, Z05P3Y4, Astana, Kazakhstan., Nazarova L; University Medical Center CF, Kerey-Zhanibek Handar St. 5/1, Z05P3Y4, Astana, Kazakhstan., Nauryzbayeva A; University Medical Center CF, Kerey-Zhanibek Handar St. 5/1, Z05P3Y4, Astana, Kazakhstan., Tanko NM; University Medical Center CF, Kerey-Zhanibek Handar St. 5/1, Z05P3Y4, Astana, Kazakhstan.; Department of Biomedical Sciences, School of Medicine, Nazarbayev University, Astana, Kazakhstan, 010000., Rakhimova S; Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000., Satvaldina N; Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000., Samatkyzy D; Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000., Kozhamkulov U; Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000., Kairov U; Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000., Akilzhanova A; Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000., Sarbassov D; Center for Life Sciences, National Laboratory Astana, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000.; School of Sciences and Humanities, Nazarbayev University, Kabanbay batyr Ave 53, Astana, Kazakhstan, 010000.

Publikováno v: Molecular neurobiology [Mol Neurobiol] 2024 Oct 12. Date of Electronic Publication: 2024 Oct 12.

Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy.

Autor: Lee, Jiwon¹ (AUTHOR), Lee, Chung² (AUTHOR), Ki, Chang‐Seok³ (AUTHOR), Lee, Jeehun¹ (AUTHOR) jhlee0101@skku.edu

Publikováno v: Molecular Genetics & Genomic Medicine. Sep2020, Vol. 8 Issue 9, p1-14. 14p.