Infantile spasms are a catastrophic form of pediatric epilepsy with inadequate treatment. In patients, mutation of ARX, a transcription factor selectively expressed in neuronal precursors and adult inhibitory interneurons, impairs cell migration and causes a major inherited subtype of the disease X-linked infantile spasms syndrome. Using an animal model, the Arx((GCG)10+7) mouse, we determined ...

This study aimed to evaluate the use of ictal EEG recordings combined with simultaneous surface EMG in the diagnosis and analysis of motor events, both epileptic and nonepileptic. All ictal registrations were performed utilizing radio/cable telemetry. Routine recordings consisted of 18-channel EEG plus 8-channels bipolar surface EMG in freely moving patients. Combined ictal EEG-EMG recordings i...

Infantile spasms are a severe epileptic encephalopathy with a variety of etiologies that occur in infancy and early childhood. Subjects with infantile spasms are at a higher risk for evolving into intractable epileptic spasms, tending to be refractory to conventional antiepileptic drugs. Genetic polymorphisms of the P-glycoprotein-encoding gene ABCB1 are suspected to be associated with pharmaco...

objective: infantile spasm is an age dependent ant myoclonic seizure which occurs in 25 per 100,000 live births. we aimed to investigate effect of intravenous methypredinsolone pulse on the infantile spasm in patients hospitalized in 17 shahrivar hospital, rasht. materials and methods: this is an observational case series which was conducted on 20 infants with infantile spasms hospitalized in 1...

BACKGROUND Radial artery spasm is a common hinderance during transradial approaches for neuroangiography. Ways of alleviation have been described, including patient sedation, local lidocaine, or even prophylactic administration intra‐arterial vasodilators. METHODS We present case wedged catheter attributable to radial spasm, which failed all conventional methods relieve spasm. RESULTS The was u...

We report on a female patient with severe infantile spasms, profound global developmental arrest, hypsarrhythmia and severe mental retardation, associated with a de novo apparently balanced X;autosome translocation. Her neurological phenotype resembles that of X-linked infantile spasms (ISSX). Molecular study showed that the translocation disrupts a transcript involved in GTPases signalling, IQ...

INTRODUCTION Refractory epilepsy is a common clinical manifestation in patients with tuberous sclerosis complex (TSC), which can be complicated by many life-threatening conditions, such as status epilepticus (SE). However, very few reports mention the patterns and semiology of SE in those patients. OBJECTIVE To study the clinical characteristics and outcomes of SE in TSC patients. MATERIALS...

As pharmacological spasm provocation tests, acetylcholine (ACh) [1-3] and ergonovine (ER) [4,5] are employed in the cardiac catheterization laboratory. However, we often encounter the major and minor complications during performing these procedures. As a diagnostic tool, we should perform spasm provocation tests more safely without major complications. Multiple and proximal spasm documented by ...