Novel KCNQ2 missense variant expands the genotype spectrum of DEE7-Reference-Cited by-同舟云学术

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Novel KCNQ2 missense variant expands the genotype spectrum of DEE7

Published:2024-06-17 Issue: Volume: Page:
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

Wang Chao,Zhai JinXia,Chen YongJun^ORCID

Funder

Postgraduate Scientific Research Innovation project of Hunan Province

Natural Science Foundation of Hunan Province

Key Projects of Hunan Provin cial Health and Health Commission

“4310” program of clinical medical research of the University of South China

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10072-024-07655-w.pdf

Reference46 articles.

1. Hawkins NA, Anderson LL, Gertler TS, Laux L, George AL, Kearney JA (2017) Screening of conventional anticonvulsants in a genetic mouse model of epilepsy. Ann Clin Transl Neurol 4(5):326–339

2. Contreras Ramirez V, Vaddiparti A, Blumenfeld H (2022) Testing awareness in focal seizures: Clinical practice and interpretation of current guidelines. Ann Clin Transl Neurol 9(5):762–765

3. Vongerichten AN, Santos GSD, Aristovich K, Avery J, McEvoy A, Walker M, Holder DS (2016) Characterisation and imaging of cortical impedance changes during interictal and ictal activity in the anaesthetised rat. Neuroimage 124(Pt A):813–823

4. Amadori E, Scala M, Cereda GS, Vari MS, Marchese F, Di Pisa V, Mancardi MM, Giacomini T, Siri L, Vercellino F et al (2020) Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the “beyond epilepsy” project. Ital J Pediatr 46(1):92

5. Scala M, Bianchi A, Bisulli F, Coppola A, Elia M, Trivisano M, Pruna D, Pippucci T, Canafoglia L, Lattanzi S et al (2020) Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. Expert Rev Neurother 20(3):251–269

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