pleasedonate

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Infancy (first 2 years of life) Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion paternally inherited chromosome 15
 
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The MRI can be used to meet the dissemination in space requirement if the McDonald criteria for a positive MRI are applied. The MRI must show three of the following four features: (1) nine or more white matter lesions or one gadolinium-enhancing lesion, (2) three or more periventricular lesions, (3) a juxtacortical lesion, (4) an infratentorial lesion. The combination of an abnormal CSF finding and two lesions on the MRI, of which one must be in brain, can also meet the dissemination in space criteria; the CSF must...
 
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Neonatal epileptic seizures occur from birth to the end of the neonatal period.This is the most vulnerable of all the other periods of life for the development of epileptic seizures, particularly in the first 1 or 2 days from birth. Neonatal seizures differ from those of older children and adults. They may be short-lived events lasting for just a few days, but they often signify serious malfunction or damage of the immature brain, and constitute a neurological emergency that demands urgent diagnosis and management. Most neonatal seizures are acute (pro-voked, occasional, reactive) symptomatic seizures caused by an acute illness...
 
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see Neonatal seizures
 
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Neuromyelitis optica (NMO) is an inflammatory disorder of the central nervous system (CNS) that predominantly affects the optic nerves and spinal cord.
 
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{tabulizer:include style[gr.alterora.elemental_2_grey.css] id[tab_tEZSovAKYd]} Paroxysmal non-epileptic events Category Condition Clinical features Investigations ...
 
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Perampanel, a first-in-class, noncompetitive, α-amino-3-hydroxyl-5-methyl-4-isoxazole-propionate (AMPA) receptor antagonist recently approved for the adjunctive treatment of partial seizures in patients 12 years of age and older when other antiepileptic medications have failed. 
 
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This is a method for stressing the pterin system, but may be unreliable. It was developed as a biochemical marker for pterin synthesis defects associated with dopamine-responsive dystonia, especially GTP-CH deficiency. A dose of 100mg/kg of phenylalanine is used. A phenylalanine/tyrosine ratio >7.5 is suggestive, but not diagnostic, of a pterin synthesis defect. The phenylalanine must rise above 600umol/l. for the test to be valid. This test has low sensitivity and specificity.
 
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The differential diagnosis of progressive myoclonus epilepsy (PME) with onset between late childhood and late adolescence includes neuronal ceroid lipofuscinosis, type I sialidosis, and myoclonic epilepsy with ragged red fibers. However, the two most common forms of PME in this age group are Lafora disease and Unverricht–Lundborg disease (ULD).
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pleasedonate