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 […]
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 […]
Epilepsy is a neurological disorder marked by an enduring predisposition to generate epileptic seizures and by the neurobiological, cognitive, psychological, and social consequences of this condition. The complexity of epilepsy is further amplified by the existence of various genetic components that can influence its manifestation. Among these genetic factors, the HCN2 gene has been identified […]
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 […]
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 […]
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 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 […]
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.
