Zusammenhänge zwischen genetischen Ursachen psychischer Erkrankungen und seltenen monogenetischen Epilepsien
摘要
Psychiatric disorders are more common in people with epilepsy and vice versa psychiatric patients have an increased risk of epilepsy. Psychosocial factors, medication effects, peri-ictal or interictal symptoms play a role as do shared genetic mechanisms, particularly in rare monogenic epilepsy syndromes. This review article exemplary discusses GRIN2A-associated disorders, development-related and epileptic encephalopathies including Dravet syndrome and tuberous sclerosis complex. Neuropsychiatric manifestations, pathophysiological foundations and targeted treatment are summarized. Emphasis is placed on the systematic assessment of psychiatric symptoms and detailed clinical phenotyping to evaluate disease-modifying effects of emerging therapies beyond seizure control. The article highlights the clinical implications, gaps in care and to present open questions and to promote interdisciplinary neurological psychiatric management.