Understanding the nuances of genetic conditions is essential for both patients and healthcare providers. Among these, the SCN10A gene plays a significant role in the human body, particularly concerning the nervous system’s function. Mutations in this gene can lead to a condition known as Episodic Pain Syndrome Type 2, a familial genetic disorder that affects […]

Episodic ataxia type 6 (EA6) is a rare neurological disorder characterized by episodes of ataxia, which is a lack of muscle coordination that can affect speech, eye movements, and the ability to swallow, walk, and perform fine motor tasks. These episodes can vary in frequency and duration, often triggered by stress, physical exertion, or sudden […]

Episodic ataxia type 5 is a rare genetic disorder that affects the nervous system, leading to intermittent episodes of poor coordination and balance (ataxia). This condition is caused by mutations in the CACNB4 gene, which plays a crucial role in the proper functioning of calcium channels in the body. These channels are essential for the […]

Episodic ataxia type 2 (EA2) is a rare, genetically inherited neurological disorder characterized by bouts of ataxia, which refers to a lack of muscle control or coordination of voluntary movements. This condition is caused by mutations in the CACNA1A gene, which plays a critical role in the communication between neurons in the brain. Understanding the […]

Episodic ataxia type 1 (EA1) is a rare genetic disorder that affects the nervous system, leading to intermittent episodes of ataxia, or lack of muscle control and coordination. This condition is caused by mutations in the KCNA1 gene, which plays a critical role in regulating the electrical signals in the brain and other parts of […]

Epileptic encephalopathies represent a group of severe brain disorders in which epilepsy is accompanied by cognitive, sensory, and motor impairments. Among these, Lennox-Gastaut syndrome (LGS) stands out as a particularly challenging condition, characterized by a triad of multiple seizure types, cognitive dysfunction, and a specific EEG pattern. Recent advancements in genetics have identified the MAPK10 […]

Symptoms of CHD2 Gene Epileptic Encephalopathy Childhood-Onset Epileptic encephalopathies are a group of severe brain disorders characterized by the onset of epilepsy in the context of cognitive, sensory, and motor impairments. One such disorder, linked to mutations in the CHD2 gene, manifests in childhood and is known for its profound impact on neurological development. Recognizing […]

Epilepsy is a neurological disorder marked by recurrent, unprovoked seizures. One of the genetic factors contributing to certain types of epilepsy is mutations in the SYN1 gene. This gene plays a crucial role in the function of synapses in the brain, which are critical for the transmission of nerve impulses. Mutations in the SYN1 gene […]

DNA Labs UAE is at the forefront of genetic testing and research, offering a wide range of services to help individuals understand their genetic makeup and potential health risks. One of the critical tests provided by DNA Labs UAE is for the KCNC1 gene mutation, which is linked to epilepsy progressive myoclonic type 7. This […]

In the realm of genetic testing and diagnosis, understanding the intricacies of specific genes and their associated conditions is paramount for both patients and healthcare providers. One such condition, epilepsy progressive myoclonic type 5, has been linked to mutations in the PRICKLE2 gene. This article delves into the symptoms associated with this condition, the significance […]