Neurology
Rare syndromes often have genetic causes
Hereditary influences play a significant role in many health disorders and developmental peculiarities.
Genetic diagnostics can help not only to identify genetic neurological diseases, but also to determine the individual risk for certain diseases.
Individuals who carry certain genetic variants may have an increased risk of developing neurological diseases such as Alzheimer’s, Parkinson’s, epilepsy, dementia or autism.
Using various technologies, we can identify the genes associated with neurological diseases. This not only enables a better understanding of the underlying causes, but also opens up
opportunities for the development of targeted therapeutic approaches and offers the potential to improve the quality of life of people with neurological diseases.
Neurology (Panel Investigations)
Epilepsy
- Absence Epilepsy
- Angelman/Angelman-like Syndrome
- Benign Neonatal Seizures
- Dravet Syndrome
- Epilepsy with increased relevance for therapy
- Epileptic Encephalopathy
- Familial Hemiplegic Migraine
- Familial Nocturnal Frontal Lobe Epilepsy (ADNFLE)
- Focal Epilepsy
- Early Infantile Epileptic Encephalopathy
- Generalized Epilepsy with Febrile Seizures (GEFS)
- Generalized Juvenile Myoclonic Epilepsy
- Hereditary Hyperekplexia
- Creatine Deficiency Syndrome
- Landau-Kleffner Syndrome
- Lennox-Gastaut Syndrome
- Ohtahara Syndrome
- Progressive Myoclonic Epilepsy
- Rett Syndrome and Rett-like Syndrome
- West Syndrome (Epileptic Encephalopathy Type 1)
Neuromuscular Disorders
- Hereditary Neuropathies
- Myasthenic Syndromes
- Myopathies
- Myotonias
- Periodic Paralyses
- Spinal Muscular Atrophy
Neurodegenerative Diseases
- Alzheimer’s Disease
- Ataxia and Differential Diagnoses
- Basal Ganglia Calcification
- Cerebral Microangiopathy
- Dystonia
- Hereditary Spastic Paraplegia (HSP)
- Leukodystrophy/Leukoencephalopathy
- Parkinson’s Disease