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 […]

Progressive Myoclonic Epilepsy type 4 (PME4), caused by mutations in the SCARB2 gene, is a rare neurological disorder characterized by a combination of epilepsy, myoclonus (involuntary muscle jerks), and, in some cases, renal failure. Understanding the symptoms and genetic underpinnings of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a […]

Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. Among its various forms, nocturnal frontal lobe epilepsy (NFLE) presents a unique set of challenges and symptoms for those affected. The CHRNA2 gene has been identified as one of the genetic factors contributing to NFLE, specifically Type 4. Understanding the symptoms and genetic underpinnings of […]

Epilepsy is a neurological condition characterized by recurrent seizures, which are sudden surges of electrical activity in the brain. Among its various types, Nocturnal Frontal Lobe Epilepsy (NFLE) presents a unique pattern, primarily occurring during sleep. Type 3 NFLE, associated with mutations in the CHRNB2 gene, is a rare but significant form, necessitating precise diagnostic […]