BACKGROUND Synaptojanin 1 is encoded by the SYNJ1(MIM 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegene...


 Lennox-Gastaut syndrome (LGS) is a form of severe epileptic encephalopathy in children. LGS with encephalomalacia cysts rare We report six-year-old mentally retarded boy who was referred for an intractable seizure. Seizures were tonic, atonic, and dialeptic frequency. EEG showed generalized SSW discharges 1.5-2 Hz, polyspikes, burst suppression typical LGS. Head MRI cyst the right subcor...

The modified Atkins diet (MAD) is a dietary treatment for epilepsy which does not restrict fluids or calories. This theoretically makes the MAD safer than the ketogenic diet for children with Sturge-Weber syndrome (SWS). Five children aged 4-18 years with SWS and at least monthly intractable seizures were started prospectively on the MAD for 6 months. All children had urinary ketosis and seizur...

People with epilepsy are prone to head injuries and these traumas are usually considered adverse events. We report the case of a 31-year-old woman who sustained a closed head injury as a result of a seizure. This accidental trauma resulted in a 1-year remission of her previously intractable complex partial seizures. The paradoxical improvement of a seizure disorder can occur as a result of a cl...

We analyzed surgical results of anterior callosotomy (AC) in 27 patients with intractable symptomatic generalized epilepsy or frontal lobe epilepsy. Excellent outcome (decrease in seizure frequency of greater than 80% or no seizure) was obtained in 59.3%, and 14.8% showed good outcome(decrease in seizure frequency of greater than 50%). There was no significant difference of the results between ...

People with epilepsy are prone to head injuries and these traumas are usually considered adverse events. We report the case of a 31-year-old woman who sustained a closed head injury as a result of a seizure. This accidental trauma resulted in a 1-year remission of her previously intractable complex partial seizures. The paradoxical improvement of a seizure disorder can occur as a result of a cl...

Ictal intracranial EEG correlates of cortical FDG and FMZ PET abnormalities in patients with neocortical epilepsy…………………. 21 4.1.1. FMZ PET is more sensitive than FDG PET in detection of seizure onset defined by intracranial EEG monitoring……21 4.1.2. Seizure onset occurs most often at the border of cortex with glucose hypometabolism……………………………….. 21 4.2. Electroclinical correlates of FDG and FM...

We report a case of a 5-year-old boy with intractable partial seizures who developed a transient hemiparesis, worsening of the electroencephalogram (EEG) and a change in his seizure pattern with increased seizure frequency after receiving topiramate (TPM). Symptoms resolved within a month after TPM was discontinued. Clinicians need to be aware that TPM use may occasionally be associated with fo...

Epilepsy represents a multifaceted group of disorders divided into two broad categories, partial and generalized, based on the seizure onset zone. The identification of the neuroanatomic site of seizure onset depends on delineation of seizure semiology by a careful history together with video-EEG, and a variety of neuroimaging technologies such as MRI, fMRI, FDG-PET, MEG, or invasive intracrani...

Epilepsy is among the most common serious neurological disorders and affects around 50 million people worldwide, 80% of which live in developing countries. Despite introduction several new Anti-Epileptic Drugs (AEDs) last two decades, one third treated patients have seizures refractory to pharmacotherapy. This highlights need develop treatments with drugs targeting alternative seizure-induction...