Neurology Diseases

Symptoms of SLC19A3 Gene Encephalopathy Thiamine-Responsive Genetic Test SLC19A3 gene encephalopathy, also known as biotin-thiamine-responsive basal ganglia disease (BTBGD), is a rare genetic disorder that affects the nervous system. This condition is characterized by a wide range of neurological and metabolic symptoms that can vary significantly in their onset and severity. Understanding these symptoms is […]

Understanding the complexities of genetic conditions is crucial for early diagnosis and effective management. Among these, TRAF3 Gene Encephalopathy represents a rare but significant disorder that requires attention. This condition is characterized by an acute infection-induced susceptibility to herpes-specific encephalitis, particularly type 5. Identifying the symptoms early can lead to timely intervention, potentially saving lives […]

Understanding the genetic underpinnings of neurological disorders has become a pivotal aspect of modern medicine, offering insights into diagnosis, management, and potential treatment options. Among these, the WWOX gene’s role in early infantile epileptic encephalopathy type 28 (EIEE28) has garnered significant attention. This condition, characterized by severe neurological impairment beginning in infancy, necessitates a comprehensive […]

Understanding the symptoms and the importance of early diagnosis of genetic disorders is crucial in providing timely and effective treatment. One such rare but significant genetic disorder is Early Infantile Epileptic Encephalopathy Type 8 (EIEE8), caused by mutations in the ARHGEF9 gene. DNA Labs UAE is at the forefront of genetic testing services, offering a […]

Early infantile epileptic encephalopathy (EIEE), also known as Ohtahara Syndrome, is a rare and severe form of epilepsy that appears in the first few months of life, often leading to serious developmental delays and neurological issues. One of the genetic causes linked to this condition is mutations in the AARS1 gene, which is critical for […]

Understanding the complexities of genetic conditions is crucial in providing timely and effective care for affected individuals. One such condition that has garnered attention within the medical community is Early Infantile Epileptic Encephalopathy Type 3 (EIEE3), which is associated with mutations in the SLC25A22 gene. DNA Labs UAE offers a comprehensive genetic test for this […]

Early Infantile Epileptic Encephalopathy (EIEE), also known as Ohtahara Syndrome, is a severe neurological disorder that appears in the early stages of infancy, often within the first few months of life. Among the genes associated with this condition, the SIK1 gene has been identified as a significant contributor to the development of EIEE type 30. […]

Early Infantile Epileptic Encephalopathy (EIEE), also known as Ohtahara Syndrome, is a severe form of epilepsy that appears in the first few months of a child’s life. Among the various genetic factors that contribute to this condition, mutations in the DNM1 gene have been identified as a cause of EIEE type 31. Understanding the symptoms […]

Understanding the KCNA2 Gene and Early Infantile Epileptic Encephalopathy Type 32 Early Infantile Epileptic Encephalopathy (EIEE) represents a group of severe brain disorders that manifest in the first few months of life, often leading to developmental delays and various neurological challenges. Among these, EIEE type 32, linked to mutations in the KCNA2 gene, has garnered […]

Understanding the symptoms and implications of early infantile epileptic encephalopathy type 33 (EIEE33) is crucial for families and healthcare providers. This rare but severe condition, associated with mutations in the EEF1A2 gene, can lead to significant developmental challenges and neurological issues in affected infants. DNA Labs UAE offers a comprehensive genetic test for EIEE33, providing […]