نتایج جستجو برای: pyridoxine dependent epilepsy
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Sandifer syndrome (SS), a movement disorder which is characterised by spasmodic torsional dystonia with back arching and rigid opisthotonic posturing, negatively impacting predominantly the neck, back, upper extremities. Symptomatic gastro-esophageal reflux disease, esophagitis, or presence of hiatal hernia are all associated syndrome. The cause being uncertain, lifestyle adjustments modificati...
Eight children with pyridoxine-dependent seizures (PDS) were seen over a period of 10 years. Of those children, 6 are on regular follow-up. Four of the children were seen in one family. All the patients presented with refractory seizures, mainly neonatal status epilepticus. Though PDS is a rare condition, it must be considered in all cases with refractory seizures, particularly in children youn...
This manuscript reviews biological abnormalities shared by autism spectrum disorder (ASD) and epilepsy. Two neuropathological findings are shared by ASD and epilepsy: abnormalities in minicolumn architecture and γ-aminobutyric acid (GABA) neurotransmission. The peripheral neuropil, which is the region that contains the inhibition circuits of the minicolumns, has been found to be decreased in th...
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