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 […]
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Symptoms and Testing information for MAPK10 Gene Epileptic encephalopathy Lennox-Gastaut type Genetic Test
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 and Testing information for CHD2 Gene Epileptic encephalopathy childhood-onset Genetic Test
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 […]
Symptoms and Testing information for SYN1 Gene Epilepsy X-linked with learning disabilities and behavior disorders Genetic Test
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 […]
Symptoms and Testing information for KCNC1 Gene Epilepsy progressive myoclonic type 7 Genetic Test
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 […]
Symptoms and Testing information for PRICKLE2 Gene Epilepsy progressive myoclonic type 5 Genetic Test
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 […]
Symptoms and Testing information for SCARB2 Gene Epilepsy progressive myoclonic type 4 with or without renal failure Genetic Test
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 […]
Symptoms and Testing information for CHRNA2 Gene Epilepsy nocturnal frontal lobe type 4 Genetic Test
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 […]
Symptoms and Testing information for CHRNB2 Gene Epilepsy nocturnal frontal lobe type 3 Genetic Test
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 […]
Symptoms and Testing information for CHRNA4 Gene Epilepsy nocturnal frontal lobe type 1 Genetic Test
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 […]