Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital.

Fahad A Bashiri,Rawan AlSheikh,Muddathir H Hamad,Hamad Alsheikh,Rana Abdullah Alsheikh,Amal Kentab,Najd AlTheeb,Malak Alghamdi

Children (Basel, Switzerland)（2023）

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摘要

Multiple mutations among children with epilepsy are reported in one hospital in Saudi Arabia, with the majority reported for the first time. The current findings highlight the importance of doing genetic testing for the evaluation of childhood epilepsy.

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Saudi Arabia,children,epilepsy,genetics,genotype,mutations,phenotype

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