Search Results - "Muranaka, Hideki"
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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)
Published in Epilepsia (Copenhagen) (01-02-2004)“…Purpose: Severe myoclonic epilepsy in infancy (SMEI) is a distinct epilepsy syndrome. Patients with borderline SMEI (SMEB) are a subgroup with clinical…”
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Visual Symptoms in Epilepsy and Migraine: Localization and Patterns
Published in Epilepsia (Copenhagen) (01-01-2001)“…Purpose: To clarify differences in the localization of visual symptom patterns in epilepsy and migraine, we analyzed patient‐generated illustrations of visual…”
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Associations between risk factors for valproate hepatotoxicity and altered valproate metabolism
Published in Epilepsia (Copenhagen) (01-01-1992)“…The effects of three risk factors for valproate (VPA) hepatotoxicity (i.e., young age, polypharmacy, and high VPA serum level) on the metabolism of VPA to its…”
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Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)
Published in Epilepsia (Copenhagen) (01-02-2004)“…Severe myoclonic epilepsy in infancy (SMEI) is a distinct epilepsy syndrome. Patients with borderline SMEI (SMEB) are a subgroup with clinical features similar…”
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Congenital familial myopathy with type 2 fiber hypoplasia and type 1 fiber predominance
Published in Brain & development (Tokyo. 1979) (01-07-1997)“…A 12-month-old girl with delayed developmental milestones, due to muscle hypotonia and weakness from early infancy, exhibited type 2 fiber hypoplasia. A muscle…”
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Is 2-propyl-4-pentenoic acid, a hepatotoxic metabolite of valproate, responsible for valproate-induced hyperammonemia?
Published in Epilepsia (Copenhagen) (01-05-1992)“…To investigate the association between valproate metabolism (VPA) and VPA-induced hyperammonemia together with the contribution of VPA hepatotoxicity risk…”
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Recurrent tongue biting due to hypnic myoclonia in infancy
Published in No to hattatsu (01-07-2000)“…We report a 15-month-old female infant who had recurrent tongue biting due to hypnic myoclonia. She began to bite her tongue and bleed when she was 9 months…”
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Case report of muscle cramp versus focal epilepsy
Published in No to hattatsu (01-09-1999)“…We report here a boy suffering from muscle cramps in the right upper extremity. At 32 days of age, he developed purulent meningitis followed by paresis of the…”
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A case of early myoclonic encephalopathy accompanied with central respiratory dysfunction
Published in No to hattatsu (01-09-1994)“…A case of unusual early myoclonic encephalopathy was reported. He showed massive and/or fragmentary myoclonic seizures soon after birth until 20 months before…”
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A novel mutation of KCNQ3 (c.925T→C) in a Japanese family with benign familial neonatal convulsions
Published in Annals of neurology (01-06-2000)“…At present, only one mutation of KCNQ3, a KCNQ potassium channel gene, has been identified as a cause of benign familial neonatal convulsions type 2 (BFNC2)…”
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A novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsions
Published in Annals of neurology (01-06-2000)Get full text
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12
Prognostic Value of Elementary Visual Hallucinations in Patients with Occipital Lobe Epilepsy
Published in Epilepsia (Copenhagen) (01-05-1998)“…Purpose: Although an elementary visual hallucination (EVH) is one of the most important symptoms in patients with occipital lobe epilepsy (OLE), a detailed…”
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13
Persistent chorea following cardiac surgery for congenital heart disease
Published in Acta paediatrica Japonica. Overseas edition (01-06-1995)“…We describe a 6 year old girl with chorea following cardiac surgery, the first such report in Japan. The radical operation for total anomalous pulmonary venous…”
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