Symptoms and Testing information for KCNA1 Gene Episodic ataxia type 1 Genetic Test

Symptoms and Testing information for KCNA1 Gene Episodic ataxia type 1 Genetic Test

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 […]

Symptoms and Testing information for CACNA1A Gene Episodic ataxia type 2 Genetic Test

Symptoms and Testing information for CACNA1A Gene Episodic ataxia type 2 Genetic Test

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 […]

Symptoms and Testing information for GABRD Gene Epilepsy idiopathic generalized type 10 Genetic Test

Symptoms and Testing information for GABRD Gene Epilepsy idiopathic generalized type 10 Genetic Test

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. […]

Symptoms and Testing information for SLC2A1 Gene Epilepsy idiopathic generalized type 12 Genetic Test

Symptoms and Testing information for SLC2A1 Gene Epilepsy idiopathic generalized type 12 Genetic Test

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 […]

Symptoms and Testing information for EFHC1 Gene Epilepsy juvenile absence type 1 Genetic Test

Symptoms and Testing information for EFHC1 Gene Epilepsy juvenile absence type 1 Genetic Test

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 […]

Symptoms and Testing information for GRIN2A Gene Epilepsy with neurodevelopmental defects Genetic Test

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 KCNT1 Gene Epilepsy nocturnal frontal lobe Genetic Test

Symptoms and Testing information for KCNT1 Gene Epilepsy nocturnal frontal lobe Genetic Test

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 […]

Symptoms and Testing information for GABRG2 Gene Epilepsy childhood absence type 2 Genetic Test

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, […]

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