Search results for "Idiopathic epilepsy"

showing 3 items of 3 documents

Lack of SCN1A Mutations in Familial Febrile Seizures

2002

Summary:  Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…

GAMMA-2-SUBUNITMaleFebrile convulsionsDNA Mutational Analysismedicine.disease_causePolymerase Chain ReactionSodium ChannelsFebrileEpilepsyExonPLUSDNA Mutational AnalysisGene duplicationChildIndex caseChromatography High Pressure LiquidGeneticsChromatographyMutationIdiopathic epilepsyExonsNeurologyIon channelsHigh Pressure LiquidFemaleGeneralized epilepsy with febrile seizures plusMutationsAdultAdolescentGENERALIZED EPILEPSYNerve Tissue ProteinsSeizures FebrileSeizuresGeneticsmedicineHumansFamilybusiness.industryCONVULSIONSGene AmplificationSODIUM-CHANNELmedicine.diseaseGENEDYSFUNCTIONNAV1.1 Voltage-Gated Sodium ChannelFebrile convulsions; Genetics; Idiopathic epilepsy; Ion channels; Mutations; Adolescent; Adult; Child; Chromatography High Pressure Liquid; DNA Mutational Analysis; Exons; Female; Gene Amplification; Humans; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Polymerase Chain Reaction; Seizures Febrile; Sodium Channels; FamilyMutationMyoclonic epilepsyNeurology (clinical)businessEpilepsia
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Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy

2011

Abstract Benign myoclonic epilepsy in infancy (BMEI) is a rare syndrome included among idiopathic generalized epilepsies (IGE) and syndromes with age-related onset. Recently, it has been shown that a few patients with BMEI later had other epilepsy types mainly IGE but never childhood absence epilepsy (CAE). We report a patient who at 11 months of age showed isolated myoclonic jerks occurring several times a day. The ictal video-EEG and polygraphic recording revealed generalized discharge of spike-wave (SW) lasting 1–2s associated with isolated bilateral synchronous jerk involving mainly the upper limbs controlled by valproic acid (VPA). At 6 years and 8 months the child developed a new elec…

Pediatricsmedicine.medical_specialtyMyoclonic JerkClinical NeurologyEpilepsies MyoclonicEpilepsiesChildhood absence epilepsyEpilepsyChildhood absence epilepsyEpilepsy in infancySettore M-PSI/08 - Psicologia ClinicaHumansMedicineRare syndromeIctalMyoclonic epilepsy Epilepsy in infancy Idiopathic epilepsy Childhood absence epilepsyChildValproic AcidEpilepsybusiness.industryIdiopathic epilepsyAge FactorsIctal eegGeneral Medicinemedicine.diseaseChildhood absence epilepsy; Epilepsy in infancy; Idiopathic epilepsy; Myoclonic epilepsy; Age Factors; Child; Epilepsies Myoclonic; Epilepsy Absence; Female; HumansSettore MED/39 - Neuropsichiatria InfantileAbsenceEpilepsy AbsenceNeurologyAnesthesiaMyoclonic epilepsyMyoclonic epilepsyFemaleNeurology (clinical)Myoclonicbusinessmedicine.drugSeizure
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Evaluation of creative thinking in children with idiopathic epilepsy (absence epilepsy).

2012

idiopathic epilepsy creative thinking children.Settore MED/39 - Neuropsichiatria Infantile
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