Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic
features, which affects children in the middle of the first year of life. The pathophysiology of IS …

… We considered “SCN8A” and “West syndrome” as IS was previously … “infantile spasms
syndrome” instead of WS. Therefore, to search broadly, we used “SCN8A” and “West syndrome” or …

… Methods: Patients (114 cases) with identified gene variants were collected from May
2013 to May 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, …

… Infantile spasms may be found in other epileptic encephalopathies other … West syndrome,
such as Lennox-Gastaut syndrome, epilepsy with myoclonic-atonic seizures, Dravet syndrome, …

… Functional analysis of several severe KCNQ2 mutations have revealed that mutations could
have several consequences and lead to a relatively similar phenotype: negative impact on …

… Epilepsy syndromes include infantile spasms (IS), EIEE, Lennox–Gaustaut … epileptic
syndrome phenotype in STXBP1 encephalopathy (53%), a transition from EIEE to West syndrome …

… Infantile spasms represent a specific syndrome of generalized epileptic seizures associated
… , and EEG features of the disease phenotype associated with the specific mutation help the …

… Infantile spasms syndrome is considered an epileptic encephalopathy with ongoing
neurological damage due to seizures and epileptiform abnormalities [9]. Although most of the …

… The risk is more relevant in patients with severe phenotype and patients … infantile spasms
typically exhibit epileptic spasms along with the electroencephalographic (EEG) pattern known …

… epileptic encephalopathies—West syndrome (infantile spasms), Lennox-Gastaut syndrome,
and … Yet, the resultant phenotype of infantile spasms and its EEG hallmark, hypsarrhythmia, …