Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy

The cerebral cortex, a critical structure of the brain, is intricately divided into two hemispheres, each consisting of four distinct lobes: occipital, temporal, frontal, and parietal. These lobes function cooperatively to regulate various cognitive and sensory functions, forming the basis of our complex neural capabilities.
Frontal lobe
The frontal lobes, located behind the forehead, are the command center of our brain, controlling personality, intelligence, and voluntary muscle movements....

Overview

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Epilepsy is a chronic neurological disease marked by recurrent, unpredictable seizures. These seizures are caused by abnormal electrical discharges in the brain, leading to behavior, sensation, or consciousness alterations. They can also cause transient impairment of awareness, interfering with daily activities.
Various factors can trigger epilepsy, including genetic factors, brain damage, metabolic causes, and unknown etiology. Diagnosis of epilepsy involves electroencephalography (EEG), which...

Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.