Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy-Reference-Cited by-同舟云学术

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Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

Published:2006 Issue:4 Volume:27 Page:389-389
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Depienne Christel,Arzimanoglou Alexis,Trouillard Oriane,Fedirko Estelle,Baulac Stéphanie,Saint-Martin Cécile,Ruberg Merle,Dravet Charlotte,Nabbout Rima,Baulac Michel,Gourfinkel-An Isabelle,Leguern Eric

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 94 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Parental germline mosaicism in genome-wide phased de novo variants: recurrence risk assessment and implications for precision genetic counselling;2024-08-13

2. Human embryonic genetic mosaicism and its effects on development and disease;Nature Reviews Genetics;2024-04-11

3. Impact of variant subtype on electro-clinical phenotype of Dravet syndrome- a South Indian cohort study;Seizure: European Journal of Epilepsy;2024-02

4. Epilepsies;Handbook of Clinical Neurology;2024

5. Epilepsy;Neurogenetics for the Practitioner;2024

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