Steroids and adrenocorticotrophic hormone (ACTH) have been used for the treatment of infantile spasms for several years. However, the use of steroids in the treatment of epilepsy beyond infantile spasms has been limited to only a few studies. We report the experience with steroids in 32 children with intractable epilepsy, not including West syndrome. In 47% there was a decrease in seizure frequ...

Vigabatrin, the first therapeutic agent to be approved by the Food and Drug Administration for the treatment of infantile spasms, as well as for adjunctive use in the treatment of refractory complex partial epilepsy, represents an important advance for patients with difficult-to-manage epilepsy. This review summarizes the complex history, chemistry, and pharmacology, as well as the clinical dat...

Tuberous sclerosis complex (TSC) is a multi-system disorder resulting from mutations in either the TSC1 or TSC2 genes leading to hyperactivation of mechanistic target of rapamycin (mTOR) signaling. TSC is commonly associated with autism (61%), intellectual disability (45%), and behavioral, psychiatric, intellectual, academic, neuropsychological, and psychosocial difficulties that are collective...

BACKGROUND AND OBJECTIVES Tuberous sclerosis complex (TSC) is a multi-systemic disorder that involves primarily CNS, skin, kidney and heart. The aim of this study is to determine whether seizures type, interictal EEGs and tubers burden in MRI are correlated to seizure and intellectual outcome, and to identify the clinical risk factors for mental retardation and developing autism in these patien...

OBJECTIVE To compare adrenocorticotropic hormone with vigabatrin as a single mono-therapy for infantile spasms. We studied hospitalization time, clinical response, whether complete or partial, time taken for improvement, and presence or absence of recurrence after stopping the medication. Together with improvement of electroencephalographic changes, and time taken for significant response, neur...

Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) have been detected in patients presenting with seizures in the first few months of life and Rett syndrome features. Twenty-seven cases have been detected to date. Generalized intractable seizures, as infantile spasms, and generalized tonic-clonic seizures and myoclonic seizures characterize the clinical picture of CDKL5 mutat...

Constitutional mosaic trisomy 8 syndrome occurs in approximately 1 of 35 000 live births. Clinically, it has a variable presentation. Some patients are asymptomatic, while others have multisystemic involvement. The overall incidence of neurological abnormalities has not been reported, but seizures are among the neurological symptoms associated with this condition. Previous reports describe asta...

PURPOSE OF REVIEW The aim of this article is to review new epilepsy syndromes, acquire a new understanding of older ones and emphasize the impact of this concept on basic research regarding aetiology and treatment. RECENT FINDINGS In addition to those included in the classification of the International League Against Epilepsy, new epilepsy syndromes comprise febrile seizures plus, benign fami...