Genetic Testing in Pediatric Epilepsy
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Genetic Testing in Pediatric Epilepsy Ishwar C. Verma 1
&
Sameer Bhatia 1
&
Veronica Arora 1
Received: 27 July 2020 / Accepted: 24 September 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract With the advent of next generation sequencing technology there has been a spurt of papers on genetics in epilepsy in children. Genetic testing has now become an essential part of clinical practice in epilepsy. It helps in reaching an etiological diagnosis, providing prognostic information, guiding therapy precisely indicated for the patient and avoiding drugs that may worsen the seizures. Once the pathogenic variant has been found, this enables determining and counseling the risk of recurrence to the patient and other relatives at risk. It also makes available different reproductive options such as prenatal diagnosis or pre-implantation diagnosis. The authors describe the benefits, the clinical situations that require genetic testing, the types of genetic tests that are available, and how to choose the appropriate test and their likely yields. Genetic counseling, both pre- and post-test that should be provided is described briefly. Two useful tables are included that depict the therapy for variants in different epilepsy genes. Keywords Epilepsy genes . Benefits . Indications . Genetic testing technology . Yield . Genetic counseling
Introduction There are more genes expressed in the brain than any other organ. It is expected, therefore, that there would be many genetic tests for epilepsy, which is the commonest disorder affecting the brain. However, neurologists got interested in genetic testing in epilepsy only after the onset of massively parallel sequencing complemented by high quality imaging that opened up the field of genetic origins of epilepsy, and publication of numerous studies on this topic [1]. As a result, genetic testing has now entered into the epilepsy clinic and ushered a precision medicine approach to therapy. Examples which readily come to mind are use of pyridoxine in cases with mutations in ALDH7A1 gene, or ketogenic diet in GLUT1 deficiency due to mutations in SLC2A1 gene [2]. Patients with genetic forms of epilepsy would have to be referred to clinical geneticists until the neurologists as well as pediatricians get acquainted with basic genetics, and learn to interpret the next generation sequencing reports. Genetics should now be part of everyday clinical epilepsy practice and the word idiopathic be left behind. There is a need to make
* Ishwar C. Verma [email protected] 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi 110060, India
professionals dealing with epilepsy to be aware of the new paradigm.
Studies in India A recent well-designed and well-conducted five-center population-based study on developmental disorders in Indian children 2-9 y showed a surprisingly high prevalence of epilepsy: 1.1% in the 2-6 y age group, while in the age group 6-9 y it was 2.2% [3]. In cases with epilepsy other neurodevelopmental disorders were present in 55.1% of
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