نتایج جستجو برای: choreoathetosis
تعداد نتایج: 1147 فیلتر نتایج به سال:
Paroxysmal nonepileptic events are episodic changes in behavior, sensation, or consciousness that similar to epileptic seizures but not associated with abnormal ictal brain electrophysiological discharges. Here, a case treated as seizure was presented order draw attention paroxysmal differential diagnosis.
 A 4 years old girl sent our hospital the diagnose of status epilepticus due change ...
BACKGROUND Mutations in the PRRT2 gene have been identified as the major cause of benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with paroxysmal choreoathetosis/dyskinesias (ICCA). Here, we analyzed the phenotypes and PRRT2 mutations in Chinese families with BFIE and ICCA. METHODS Clinical data were collected from 22 families with ...
BACKGROUND Paroxysmal kinesigenic choreoathetosis (PKC) is characterised by recurrent and brief attacks of involuntary movement, inherited as an autosomal dominant trait with incomplete penetrance. A PKC locus has been previously mapped to the pericentromeric region of chromosome 16 (16p11.2-q12.1), but the causative gene remains unidentified. METHODS/RESULTS Deep sequencing of this 30 Mb reg...
We investigated the involvement of PKA and PKC signaling in a negatively reinforced operant learning paradigm in Aplysia, learning that food is inedible (LFI). In vivo injection of PKA or PKC inhibitors blocked long-term LFI memory formation. Moreover, a persistent phase of PKA activity, although not PKC activity, was necessary for long-term memory. Surprisingly, neither PKA nor PKC activity wa...
Protein kinase C has long been thought to mediate DAG signaling at the synapse. Recently PKC has been supplanted by members of the Unc13 family as the predominant effectors of DAG signaling. Thanks to a study by Wierda and colleagues in this issue of Neuron, PKC returns to reclaim part of the kingdom: both pathways must be active to activate presynaptic potentiation.
Background: Systemic lupus erythematosus (SLE) can affect almost any organ system. Nevertheless, Lupus nephritis and neuropsychiatric manifestations (NPSLE) are associated with increased mortality (1). Therapeutic options include glucocorticoids, often pulse methylprednisolone (MP), other immunosuppressive therapies. In refractory cases, therapeutic plasma exchange, rituximab, or intravenous im...
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