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Objective
Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype correlations associated with frequently encountered variants.
Methods
A cross‐sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent...
The current study was designed to analyze the clinical spectrum of Psychogenic non-epileptic seizures (PNES) in children.Children aged 6–16years with clinically suspected PNES, confirmed by short-term VEEG (STVEEG{video electroencephalogram}) and induction were classified as per Seneviratne classification. Stressors, associated co morbidities, Verbal IQ (Intelligence Quotient) and behavioral abnormalities...
Epilepsy of infancy with migrating focal seizures {a.k.a malignant migrating partial seizures of infancy (MMPSI)} is an uncommon epileptic encephalopathy with a poor prognosis. Migrating focal seizures with autonomic features, developmental stagnation and refractoriness to treatment are its key features. It is caused by genetic defects in various ion channels, most common being sodium activated potassium...
In children, migraine with or without aura is a common entity, however variants like recurrent painful optic neuropathy (RPON) is rarely encountered.A 9year old boy presented with headache for 1week and restricted movements and drooping in both eyes for last 3days. On examination he had bilateral ophthalmoplegia and ptosis. History of migrainous headache was present in the patient as well as his mother...
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