Publications:

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Frontiers In Genetics

Mellone, Simona S; Puricelli, Chiara C; Vurchio, Denise D; Ronzani, Sara S; Favini, Simone S; Maruzzi, Arianna A; Peruzzi, Cinzia C; Papa, Amanda A; Spano, Alice A; Sirchia, Fabio F; Mandrile, Giorgia G; Pelle, Alessandra A; Rasmini, Paolo P; Vercellino, Fabiana F; Zonta, Andrea A; Rabbone, Ivana I; Dianzani, Umberto U; Viri, Maurizio M; Giordano, Mara M

Publication Date: 2022

Variant appearance in text: SCN1A: 5104G>T; Asp1702Tyr; rs748333147

PubMed Link: 36035117

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.pdf

View BVdb publication page

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: 5104G>T

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

View BVdb publication page