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Neurogenetics
Assessment of Genetic Neurological Disorders
The evaluation of neurological disorders associated with genetic changes requires consideration of clinical findings, developmental characteristics, and appropriate genetic testing together.
What Is Neurogenetics?
Neurogenetics is a field focused on the diagnosis and evaluation of neurological disorders caused by or associated with genetic changes. In childhood, some epilepsies, neurodevelopmental disorders, movement disorders, congenital neurological disorders, and rare diseases may be associated with genetic causes.
During the genetic evaluation process, the child’s clinical findings, neurological examination, developmental characteristics, and family history are considered together to plan appropriate genetic testing.
Not Every Genetic Finding Indicates a Disease.
The clinical significance of a genetic variant identified through genetic testing should be evaluated together with the child’s clinical findings and family history. Therefore, genetic test results should not be interpreted based solely on the test result; clinical correlation is important.
Clinical Evaluation
The child’s neurological findings, developmental characteristics, and medical history are evaluated together.
Family History
The presence of similar findings or congenital diseases in the family is taken into consideration during the evaluation process.
Genetic Testing
Appropriate genetic tests and molecular analyses may be planned based on the clinical findings.
Interpretation of Results
Genetic findings are evaluated together with the child’s clinical characteristics and family history.
Approach to Genetic Neurological Disorders
Genetic neurological disorders encompass a broad clinical spectrum. Developmental delay, epilepsy, movement disorders, neuromuscular findings, or various neurological symptoms may be among the clinical features of certain genetic disorders.
In the diagnostic approach, considering clinical evaluation and genetic testing together may contribute to understanding the underlying cause of the condition and establishing an appropriate follow-up plan.
Scientific Research in Neurogenetics
Genetic neurological disorders are an important area of Prof. Dr. Pınar Gençpınar’s academic research. She participates in various studies on childhood rare diseases, genetic diagnosis, neurodevelopmental disorders, and the clinical and molecular characteristics of hereditary neurological disorders.
2023
Mitokondriyal Sitopatilere Genetik Yaklaşım
Çocuk Nörolojisinde Genetik Yaklaşımlar — Türkiye Klinikleri
2025
Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants
Annals of Indian Academy of Neurology
2026
Unmasking Genetic Etiologies in Neurodevelopmental Disorders Characterized by Cerebral Palsy: Insights From Integrative Genomic Approaches
Frontiers in Neurology