Search Results - "LORTIE, Anne"
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Clinical, environmental, and genetic determinants of multiple sclerosis in children with acute demyelination: a prospective national cohort study
Published in Lancet neurology (01-05-2011)“…Summary Background HLA-DRB1*15 genotype, previous infection with Epstein-Barr virus, and vitamin D insufficiency are susceptibility factors for multiple…”
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Brain language networks and cognitive outcomes in children with frontotemporal lobe epilepsy
Published in Frontiers in human neuroscience (27-10-2023)“…Pediatric frontal and temporal lobe epilepsies (FLE, TLE) have been associated with language impairments and structural and functional brain alterations…”
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3
The combination of subdural and depth electrodes for intracranial EEG investigation of suspected insular (perisylvian) epilepsy
Published in Epilepsia (Copenhagen) (01-03-2011)“…Summary Purpose: We present two methods of implantation for the investigation of suspected insular and perisylvian epilepsy that combine depth and subdural…”
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De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy
Published in Annals of neurology (01-06-2009)“…We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18‐1, SYT1), which are essential…”
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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Published in Nature genetics (01-06-2002)“…Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy…”
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6
Prochlorperazine in children with migraine: a look at its effectiveness and rate of akathisia
Published in The American journal of emergency medicine (01-03-2012)“…Abstract Objective The objective of this study is to evaluate the effectiveness of prochlorperazine and the rate of akathisia in children with severe migraine…”
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Diagnosis of Migraine in the Pediatric Emergency Department
Published in Pediatric neurology (01-07-2013)“…Abstract Background Migraine criteria lack sensitivity in children and are not designed to be used in the emergency department. This study's aim was to compare…”
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Nonlesional Frontal Lobe Epilepsy (FLE) of Childhood: Clinical Presentation, Response to Treatment and Comorbidity
Published in Epilepsia (Copenhagen) (01-12-2006)“…Rationale: Few studies have looked at long‐term epileptic and cognitive outcome of frontal lobe epilepsy (FLE) in children. Most are limited by inclusion of…”
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Atypical juvenile presentation of GM2 gangliosidosis AB in a patient compound-heterozygote for c.259G>T and c.164C>T mutations in the GM2A gene
Published in Molecular genetics and metabolism reports (01-06-2017)“…GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside…”
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Neonatal Seizures: Do They Damage the Brain?
Published in Pediatric neurology (01-03-2009)“…Seizures are an early sign of brain injury in newborns. These seizures are in most cases repetitive or associated with asymptomatic electrographic seizures…”
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Ataxia-Telangiectasia Presenting With a Novel Immunodeficiency
Published in Pediatric neurology (01-05-2012)“…Abstract Ataxia-telangiectasia is a rare autosomal recessive disorder characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias, and…”
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12
Infantile Spasms in Remission May Reemerge as Intractable Epileptic Spasms
Published in Epilepsia (Copenhagen) (01-12-2003)“…Background: West syndrome consists of infantile spasms with hypsarrhythmia and is perceived as a disorder of infants. Methods: We describe 10 patients with…”
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13
Near-infrared spectroscopy as an alternative to the Wada test for language mapping in children, adults and special populations
Published in Epileptic disorders (01-09-2007)“…The intracarotid amobarbital test (IAT) is the most widely used procedure for pre-surgical evaluation of language lateralization in epileptic patients…”
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14
Characteristics of epilepsy in focal cortical dysplasia in infancy
Published in Epilepsy research (01-09-2002)“…To describe the poorly known characteristics of epilepsy during infancy in focal cortical dysplasia (FCD), one of the most frequent cause of infantile…”
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15
Recurrent pancreatitis in mitochondrial cytopathy
Published in American journal of medical genetics. Part A (01-11-2006)“…Diabetes mellitus and exocrine insufficiency are the commonest pancreatic manifestations of mitochondrial diseases. In contrast, pancreatitis has rarely been…”
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CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
Published in European journal of human genetics : EJHG (01-11-2015)“…CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive…”
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Serial Anti-Myelin Oligodendrocyte Glycoprotein Antibody Analyses and Outcomes in Children With Demyelinating Syndromes
Published in JAMA neurology (01-01-2020)“…Identifying the course of demyelinating disease associated with myelin oligodendrocyte glycoprotein (MOG) autoantibodies is critical to guide appropriate…”
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Psychogenic nonepileptic seizures
Published in Handbook of clinical neurology (2013)“…Psychogenic nonepileptic seizures (PNES) are clinical events resembling epileptic seizures but lacking abnormal cortical electrical discharges. They are…”
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Published in American journal of human genetics (02-11-2017)“…Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID),…”
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The genetic landscape of infantile spasms
Published in Human molecular genetics (15-09-2014)“…Infantile spasms (IS) is an early-onset epileptic encephalopathy of unknown etiology in ∼40% of patients. We hypothesized that unexplained IS cases represent a…”
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