0000000000654353

AUTHOR

Carlo Cianchetti

showing 2 related works from this author

Increased sensitivity of the neuronal nicotinic receptor alpha-2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

2006

Sleep has traditionally been recognized as a precipitating factor for some forms of epilepsy, although differential diagnosis between some seizure types and parasomnias may be difficult. Autosomal dominant frontal lobe epilepsy is characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements and has been associated with mutations of the α4 and β2 subunits of the neuronal nicotinic acetylcholine receptor. We performed a clinical and molecular genetic study of a large pedigree segregating sleep-related epilepsy in which seizures are associated with fear sensation, tongue movements, and nocturnal wandering, closely resembling nightmares and sleep …

AdultMalemedicine.medical_specialtyAdolescentSomnambulismMolecular Sequence DataMutation MissenseAutosomal dominant nocturnal frontal lobe epilepsyReceptors NicotinicBiologymedicine.disease_causeLigandsNicotinicArticleEpilepsyBIO/09 - FISIOLOGIAInternal medicineAcetylcholine; Adolescent; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Epilepsy; Female; Humans; Ligands; Male; Molecular Sequence Data; Mutation Missense; Neurons; Pedigree; Receptors Nicotinic; Somnambulism; FearReceptorsmedicine80 and overGeneticsHumansIctalGenetics(clinical)Amino Acid SequenceGenetics (clinical)Acetylcholine receptorAgedAged 80 and overNeuronsMutationEpilepsySeizure typesFearmedicine.diseaseAcetylcholinePedigreeNicotinic acetylcholine receptorNicotinic agonistEndocrinologyMutationnAChR patch-clamp ADNFLE sleep-related epilepsy M1 TM1 ACh nicotineSettore MED/26 - NeurologiaFemaleMissense
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Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian study

2017

Abstract Aim The purpose of this retrospective multicenter study was to evaluate the use and the self-perceived efficacy and tolerability of pharmacological and non-pharmacological treatments in children and adolescents with primary headaches. Methods Study of a cohort of children and adolescents diagnosed with primary headache, consecutively referred to 13 juvenile Italian Headache Centers. An ad hoc questionnaire was used for clinical data collection. Results Among 706 patients with primary headaches included in the study, 637 cases with a single type of headache (migraine 76% – with and without aura in 10% and 67% respectively; tension-type headache 24%) were selected (mean age at clinic…

MalePediatricsmedicine.medical_specialtyAdolescentMigraine DisordersAdolescents; Children; Migraine; Primary headaches; Tension-type headache; Treatment; Pediatrics Perinatology and Child Health; Neurology (clinical)Tension-typeTriptansPizotifenPediatrics03 medical and health sciences0302 clinical medicinechildrenPrimary headacheBehavior TherapySurveys and QuestionnairesmedicineAcupunctureHumansAmitriptylinemigraine030212 general & internal medicineadolescentsPractice Patterns Physicians'ChildFlunarizineRetrospective Studiestreatmentbusiness.industryAnti-Inflammatory Agents Non-SteroidalGeneral Medicineadolescents; children; migraine; primary headaches; tension-type headache; treatmentPerinatology and Child Healthmedicine.diseasetension-type headacheMigraineTolerabilityItalyPediatrics Perinatology and Child HealthCohortAnticonvulsantsFemaleprimary headachesNeurology (clinical)businessheadache030217 neurology & neurosurgeryPrimary headaches; Migraine; Tension-type; headache; Treatment; Children; Adolescentsmedicine.drug
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