Epilepsy, hearing loss, and mental retardation syndrome, linked to mutations in the SPATA5 gene, presents a complex set of challenges for affected individuals and their families. Understanding the symptoms and genetic underpinnings of this condition is crucial for timely diagnosis and management. DNA Labs UAE offers a comprehensive genetic testing service to help identify mutations […]
Epilepsy is a neurological disorder characterized by recurrent, unprovoked seizures. Idiopathic generalized epilepsy (IGE) represents a group of epileptic disorders that are believed to have a strong genetic component. Among the genes linked to IGE, the GABRD gene has been identified as a significant contributor to the condition known as Epilepsy, Idiopathic Generalized, Type 10. […]
Understanding the symptoms of CLCN2 gene epilepsy, specifically idiopathic generalized type 11, is crucial for individuals and families who may be at risk. This genetic condition is linked to a mutation in the CLCN2 gene, which plays a significant role in the functioning of chloride channels in the body. These channels are essential for the […]
Epilepsy is a neurological disorder marked by an enduring predisposition to generate epileptic seizures. It’s a condition that affects millions worldwide, with various underlying genetic factors contributing to its complexity. Among the genetic factors, mutations in the SLC2A1 gene have been identified as a significant cause of epilepsy, specifically idiopathic generalized epilepsy type 12. Recognizing […]
Epilepsy is a neurological disorder characterized by recurrent seizures. Among the various types of epilepsy, Juvenile Absence Epilepsy (JAE) is a condition that typically begins in childhood or adolescence. It is crucial to understand the genetic underpinnings of such disorders to provide accurate diagnoses and personalized treatment plans. In this context, the EFHC1 gene plays […]
Epilepsy is a neurological disorder marked by recurrent, unprovoked seizures. Among its various forms, nocturnal frontal lobe epilepsy (NFLE) presents a unique challenge due to its manifestation primarily during sleep. Recent advancements in genetics have identified the KCNT1 gene as a significant contributor to certain epilepsy syndromes, including NFLE. Understanding the symptoms of KCNT1 gene […]
Epilepsy is a neurological condition characterized by recurrent seizures, which are sudden bursts of electrical activity in the brain affecting how it works for a short period. Among the various types of epilepsy, Nocturnal Frontal Lobe Epilepsy (NFLE) stands out due to its unique manifestation primarily during sleep. A significant breakthrough in understanding the genetic […]
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 […]
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 […]
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 […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
