Early-Onset Epilepsy with Pontocerebellar Hypoplasia in a Consanguineous Pakistani Family

Syed Muzammil Hussain Shah; Aqsa Ali; Hafsa Urooj; Rabia Anum

doi:10.66222/ymna1r40

Authors

Syed Muzammil Hussain Shah Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Aqsa Ali Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Hafsa Urooj Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author
Rabia Anum Institute of Biotechnology and Genetic Engineering, University of Agriculture, Peshawar 25130, Khyber Pakhtunkhwa, Pakistan Author

DOI:

https://doi.org/10.66222/ymna1r40

Keywords:

Epilepsy, Pontocerebellar hypoplasia, Consanguinity, Autosomal recessive inheritance, Myoclonic seizures, MRI

Abstract

Epilepsy is a prevalent neurological condition marked by frequent, spontaneous seizures and symptoms which affects individuals of all ages worldwide (Leenen et al., 2016). Early-onset epilepsy frequently indicates an underlying genetic aetiology with autosomal recessive inheritance, especially when consanguinity and a favorable family history is present (Balestrini et al., 2021). According to estimates, there are 9.99 cases of epilepsy for every 1000 people in Pakistan. It is more common among younger people (those under 30) (Deng et al., 2014). The diagnosis of severe neurodevelopmental epileptic disorders is further supported by neuroimaging findings such as anomalies in the brainstem and cerebellum (Adamczyk et al., 2021).