Infantile spasms (IS) syndrome is an age-dependent epileptic encephalopathy, which occurs in children characterized by spasms, impaired consciousness, and hypsarrhythmia. Abnormalities in default mode network (DMN) might contribute to the loss of consciousness during seizures and cognitive deficits in children with IS. The purpose of the present study was to investigate the changes in DMN with ...

PURPOSE Familial periventricular heterotopia (PH) represents a disorder of neuronal migration resulting in multiple gray-matter nodules along the lateral ventricular walls. Prior studies have shown that mutations in the filamin A (FLNA) gene can cause PH through an X-linked dominant pattern. Heterozygotic female patients usually remain asymptomatic until the second or third decade of life, when...

BACKGROUND Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants of Rett syndrome have been described. In 1985, Hanefeld described a variant with the early appeara...

BACKGROUND Phosphatidylinositol glycan biosynthesis class A protein (PIGA) is one of the enzymes involved in the biosynthesis of glycosylphosphatidylinositol (GPI) anchor proteins, which function as enzymes, adhesion molecules, complement regulators and co-receptors in signal transduction pathways. Until recently, only somatic PIGA mutations had been reported in patients with paroxysmal nocturn...

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...

BiLmRTs 323 diseases which, with rising standards of hygiene and public services, are in themselves assuming milder forms Summary Among 516,276 triple-vaccinated children in Sweden from 1959 to 1965 neurological reactions to the vaccination occurred in 167 cases-destructive encephalopathy 3, convulsions 80, hypsarrhythmia 4, shock 54, uncontrollable screaming 24, serous meningitis 2. Serous men...

Epileptiform abnormalities contribute to progressive deterioration of cerebral function. Considered: Ohtahara Syndrome; Early myoclonic epileptic encephalopathy; West Syndrome; Dravet Syndrome; Myoclonic status in not progressive encephalopathies; CDKL5 encephalopaty. Ohtahara syndrome (OS) early infantile encephalopathy (EIEE). Most cases linked to cerebral malformations or very occasionally t...

BACKGROUND Infantile spasms (called the West's Syndrome) represent a severe epileptic syndrome which is characterized by a peculiar type of epileptic seizures, spasms, and by electroencephalographic (EEG) abnormalities often called hypsarrhythmia [1]. Infantile spasms are usually resistant to conventional antiepileptic drugs (AEDs) and adrenocorticotrophic hormone (the synthetic analog - tetrac...

A syndrome of brief repetitive massive spasms involving the muscles of the neck, trunk, and limbs, accompanied by either regression or loss of motor and mental skills, was described by Dr. W. J. West, a practitioner in Tonbridge, in his own son (1841). Dr. West had taken the child to London for a consultation with Sir Charles Clarke who had already seen four cases of what he called the 'salaam ...

Key-words Disease name / synonyms Definition / diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counselling Treatment Unresolved questions References Abstract Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also West syndrome and Lennox-Gastau...