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Updated: Jun 10, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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在CACNA1ACACNA1ACACNA1ACACNA1ACACNA1ACACNA1ACACNA1ACACNA1A>CACNA1A>CACNA1ACACNA1ACACNA1ACACNA1A>CACNA1ACACNA1A>CACNA1A

Dilbar Mammadova1, Cornelia Kraus2, Thomas Leis1

  • 1Department of Pediatrics, Pediatric Neurology, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany.

Frontiers in neurology
|October 17, 2024
PubMed
概括

在CACNA1A中,复合的异合体变异会导致严重的早期神经发育障碍,包括脑病和低血压. 这扩大了已知的CACNA1A相关疾病的临床谱.

关键词:
呼吸暂停的时间,呼吸暂停的时间.爆破抑制抑制 爆破抑制发育性性脑病变 - 发育性性脑病变早期发作的性脑病变 (Epilepsy Encephalopathy) 是一种早期发作的性脑病变.一般性是一般性.视神经缩 视神经缩

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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