Epilepsy is a neurological disorder characterized by recurrent seizures, which are brief episodes of involuntary movement that may involve a part of the body (partial) or the entire body (generalized), and are sometimes accompanied by loss of consciousness and control of bowel or bladder function. Familial Focal Epilepsy with Variable Foci (FFEVF) is a particular […]
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Symptoms and Testing information for CACNA1H Gene Epilepsy childhood absence type 6 susceptibility to Genetic Test
In the realm of genetic testing and personalized medicine, understanding the intricacies of specific genes and their impact on our health has become increasingly important. One such gene that has garnered attention is the CACNA1H gene, which is linked to epilepsy childhood absence type 6 susceptibility. DNA Labs UAE is at the forefront of providing […]
Symptoms and Testing information for GABRB3 Gene Epilepsy childhood absence type 5 Genetic Test
At DNA Labs UAE, we are dedicated to providing comprehensive genetic testing services that cater to a wide range of conditions, including epilepsy. One particular focus is on the GABRB3 gene, which has been linked to childhood absence epilepsy type 5. This condition, while specific, affects numerous families and understanding its symptoms can be crucial […]
Symptoms and Testing information for GABRA1 Gene Epilepsy childhood absence type 4 susceptibility to Genetic Test
Epilepsy is a neurological disorder marked by an enduring predisposition to generate epileptic seizures. It is a condition that affects millions of people worldwide, with various genetic factors playing a crucial role in its development. One such genetic factor is related to the GABRA1 gene, which has been linked to childhood absence epilepsy type 4 […]
Symptoms and Testing information for GABRG2 Gene Epilepsy childhood absence type 2 Genetic Test
Epilepsy is a neurological condition characterized by recurrent seizures. Among its various types, Childhood Absence Epilepsy (CAE) is notable for its impact on children, typically between the ages of 4 and 8 years. A significant development in understanding this condition has been the identification of genetic factors that contribute to its manifestation. One such gene, […]
Symptoms and Testing information for GRIN2A Gene Epilepsy with neurodevelopmental defects Genetic Test
Epilepsy is a neurological condition that affects millions of people worldwide, manifesting in recurrent, unprovoked seizures. Among the various forms of epilepsy, genetic factors play a significant role in its development and progression. One such genetic factor is mutations in the GRIN2A gene, which have been associated with epilepsy accompanied by neurodevelopmental defects. Understanding the […]
Symptoms and Testing information for DST Gene Epidermolysis bullosa simplex autosomal recessive type 2 Genetic Test
Epidermolysis Bullosa Simplex (EBS) is a group of genetic conditions that result in easy blistering of the skin and mucous membranes in response to minor injury or friction. Among the various types of EBS, the Autosomal Recessive Type 2, also known as the severe generalized type, is caused by mutations in the DST gene. This […]
Symptoms and Testing information for PLEC Gene Epidermolysis bullosa simplex with muscular dystrophy Genetic Test
Epidermolysis Bullosa Simplex with Muscular Dystrophy (EBS-MD) is a rare genetic disorder that affects the skin and muscles. It is caused by mutations in the PLEC gene, which plays a critical role in the integrity of skin cells and muscle tissue. Individuals with this condition often experience a wide range of symptoms, which can vary […]
Symptoms and Testing information for COLQ Gene Endplate acetylcholinesterase deficiency Genetic Test
Understanding COLQ Gene Endplate Acetylcholinesterase Deficiency The COLQ gene is crucial for the proper functioning of acetylcholinesterase (AChE) at the neuromuscular junction. AChE is an enzyme responsible for breaking down acetylcholine, a neurotransmitter that transmits signals between nerve cells and muscles. Deficiencies in this enzyme due to mutations in the COLQ gene can lead to […]
Symptoms and Testing information for BSCL2 Gene Encephalopathy progressive with or without lipodystrophy Genetic Test
Understanding the intricacies of genetic disorders is crucial for early diagnosis and management. Among the various conditions that have come under the spotlight for their complex manifestations and genetic underpinnings, BSCL2 Gene Encephalopathy, whether associated with lipodystrophy or not, stands out. This condition, rooted in genetic anomalies, presents a spectrum of symptoms that can significantly […]