EFHC1 mutation in Indian juvenile myoclonic epilepsy patient

Epilepsia Open
Romita ThounaojamKripamoy Aguan

Abstract

Juvenile myoclonic epilepsy (JME) is the most common form of idiopathic generalized epilepsies (IGEs) and is genetically heterogeneous. Mutations in EFHC1 cause JME. Because about 2 million people in India are affected by JME alone, we investigated the prevalence of mutations in the EFHC1 gene in the Indian population with JME. We studied 63 patients with JME and 80 healthy controls. Clinical identification of JME was evaluated using established criteria. Following clinical evaluation of the patients and confirming presence of JME, blood samples were collected from each patient and healthy individual. Subsequently, genomic DNA was extracted from the blood samples. Eleven exons of the EFHC1 gene were individually amplified by polymerase chain reaction (PCR) for each DNA sample. The PCR products were then purified and sequenced commercially. The identified DNA variants were sequenced at least twice in both the forward and reverse directions and compared with the Exome Aggregation Consortium (ExAC) database. We found five heterozygous and one homozygous variant. We found three novel coding variants 661C→T, 779 G →A, and 730 C→T, which lead to R221C, R260Q, and R244STOP amino acid substitutions, respectively. The coding variant 475...Continue Reading

References

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Citations

Nov 14, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Chung-Kin ChanChing-Ching Ng
Oct 16, 2019·Frontiers in Cellular Neuroscience·Maxime GilsoulBernard Lakaye
Apr 24, 2021·Asian Journal of Psychiatry·Dhruva IthalSanjeev Jain
May 11, 2021·BioMed Research International·Tayyaba SaleemSaira Kainat Suqaina

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Methods Mentioned

BETA
PCR

Software Mentioned

PolyPhen
SIFT

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