Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency

CONCLUSIONS: Epilepsy is one of the main symptoms in GAMT deficiency with various seizure types and non-specific EEG findings. Early diagnosis and initiation of treatment are crucial for better seizure and cognitive outcomes. This long-term follow up study highlights to include cerebral creatine deficiency syndromes in the differential diagnosis of patients with global developmental delay and epilepsy and describes the course under treatment.PMID:38394710 | DOI:10.1016/j.ejpn.2024.02.006

Source: European Journal of Paediatric Neurology - February 23, 2024 Category: Neurology Authors: Y ılmaz Yıldız Didem Ard ıçlı Rah şan Göçmen Dilek Yaln ızoğlu Meral Top çu Turgay Co şkun Ay şegül Tokatlı G öknur Haliloğlu Source Type: research