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A missense mutation of the Na+ channel αII subunit gene Nav1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
Generalized epilepsy with febrile seizures plus (GEFS+), a clinical subset of febrile seizures (FS), is characterized by frequent episodes beyond 6 years of age (FS+) and various types of subsequentExpand
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The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis
Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region andExpand
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Somatosensory automatic responses to deviant stimuli.
We studied event-related potentials (ERPs) produced in response to deviant stimuli in a sequence of somatosensory stimuli which were measured under stimulus-ignoring conditions. A change in theExpand
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A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
Objective: To identify the mutation responsible for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in a nonwhite family. Background: ADNFLE is newly recognized as an entity of idiopathicExpand
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Mutations of Neuronal Voltage‐gated Na+ Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)
Summary:  Purpose: Severe myoclonic epilepsy in infancy (SMEI) is a distinct epilepsy syndrome. Patients with borderline SMEI (SMEB) are a subgroup with clinical features similar to those of coreExpand
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Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.
Benign adult familial myoclonic epilepsy is an autosomal dominant idiopathic epileptic syndrome characterized by adult-onset tremulous finger movement, myoclonus, epileptic seizures, andExpand
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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity
Background and Methods: Many missense mutations in the voltage-gated sodium channel subunit gene SCN1A were identified in patients with generalized epilepsy with febrile seizures plus (GEFS+) andExpand
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Adenosine A1 and A2 receptors modulate extracellular dopamine levels in rat striatum
To clarify differences in the operating mechanisms of adenosine receptor subtypes (A1 and A2), striatal extracellular dopamine levels under various conditions were determined by in vivoExpand
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Stereoselective pharmacokinetics of pantoprazole, a proton pump inhibitor, in extensive and poor metabolizers of S‐mephenytoin
Pantoprazole, a proton pump inhibitor, is administered as a racemic mixture. To determine the role of cytochrome P450 (CYP) 2C19 in the stereoselective metabolism of pantoprazole, we investigated theExpand
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