Article
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Molecular diagnosis & therapy - 1 Aug 2017
Mei Davide, Parrini Elena, Marini Carla, Guerrini Renzo
Abstract excerpt
Next-generation sequencing (NGS) has contributed to the identification of many monogenic epilepsy syndromes and is favouring earlier and more accurate diagnosis in a subset of paediatric patients with epilepsy. The cumulative information emerging from NGS studies is rapidly changing our comprehension of the relations between early-onset severe epilepsy and the associated neurological impairment, progressively...
Topics
- Age of Onset
- Anticonvulsants
- Child
- Early Diagnosis
- Epilepsy
- Gene Expression
- Genetic Counseling
- High-Throughput Nucleotide Sequencing
- Humans
- Ion Channels
- Mutation