Search Results - "Hirsch, Edouard"
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Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology
Published in Epilepsia (Copenhagen) (01-04-2017)“…Summary The International League Against Epilepsy (ILAE) presents a revised operational classification of seizure types. The purpose of such a revision is to…”
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ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
Published in Epilepsia (Copenhagen) (01-04-2017)“…Summary The International League Against Epilepsy (ILAE) Classification of the Epilepsies has been updated to reflect our gain in understanding of the…”
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Instruction manual for the ILAE 2017 operational classification of seizure types
Published in Epilepsia (Copenhagen) (01-04-2017)“…Summary This companion paper to the introduction of the International League Against Epilepsy (ILAE) 2017 classification of seizure types provides guidance on…”
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies
Published in Nature genetics (01-05-2013)“…Stéphanie Baulac and colleagues report the identification of mutations in the DEPDC5 gene that cause focal epilepsies. The main familial focal epilepsies are…”
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The landscape of epilepsy-related GATOR1 variants
Published in Genetics in medicine (01-02-2019)“…Purpose To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5 , NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative…”
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Hypothalamic hamartoma: Epileptogenesis beyond the lesion?
Published in Epilepsia (Copenhagen) (01-06-2017)“…Summary The discovery of intrinsic epileptogenicity of the hypothalamic hamartoma (HH) marked a new area in understanding the associated clinical syndrome,…”
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Epileptogenic networks in nodular heterotopia: A stereoelectroencephalography study
Published in Epilepsia (Copenhagen) (01-12-2017)“…Summary Objective Defining the roles of heterotopic and normotopic cortex in the epileptogenic networks in patients with nodular heterotopia is challenging. To…”
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Update on the genetics of the epilepsy‐aphasia spectrum and role of GRIN2A mutations
Published in Epileptic disorders (01-06-2019)“…Formerly idiopathic, focal epilepsies (IFE) are self‐limiting, “age‐related” diseases that mainly occur during critical developmental periods. Childhood…”
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Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
Published in Cell reports (Cambridge) (26-01-2012)“…Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance,…”
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Nocturnal Hypermotor Seizures, Suggesting Frontal Lobe Epilepsy, Can Originate in the Insula
Published in Epilepsia (Copenhagen) (01-04-2006)“…Purpose: To report three patients with drug‐resistant nocturnal hypermotor seizures (NHSs), no detectable brain lesion, and clinically defined nocturnal…”
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A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
Published in Epilepsia (Copenhagen) (01-02-2014)“…Summary Objectives Rolandic epilepsies (REs) represent the most frequent epilepsy in childhood. Patients may experience cognitive, speech, language, reading,…”
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Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex
Published in Human molecular genetics (15-12-2010)“…It is a challenge to identify the molecular networks contributing to the neural basis of human speech. Mutations in transcription factor FOXP2 cause…”
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High-frequency oscillations and spikes running down after SEEG-guided thermocoagulations in the epileptogenic network of periventricular nodular heterotopia
Published in Epilepsy research (01-02-2019)“…•Thermocoagulations induce the running-down of HFO and spikes in normo-heterotopic epileptogenic network.•Decreased epileptogenicity correlates well with…”
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2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction
Published in Epilepsia (Copenhagen) (01-06-2019)Get full text
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Classification of the epilepsies: New concepts for discussion and debate—Special report of the ILAE Classification Task Force of the Commission for Classification and Terminology
Published in Epilepsia open (01-09-2016)“…Summary The ILAE Task Force on Classification presents a road map for the development of an updated, relevant classification of the epilepsies. Our objective…”
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Hypothalamic hamartoma: Is the epileptogenic zone always hypothalamic? Arguments for independent (third stage) secondary epileptogenesis
Published in Epilepsia (Copenhagen) (01-12-2013)“…Summary Gelastic seizures associated with hypothalamic hamartomas (HHs) are a clinicoradiologic syndrome presenting with a variety of symptoms, including…”
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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
Published in Human genetics (01-10-2016)“…Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and…”
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SRPX2 mutations in disorders of language cortex and cognition
Published in Human molecular genetics (01-04-2006)“…The rolandic and sylvian fissures divide the human cerebral hemispheres and the adjacent areas participate in speech processing. The relationship of rolandic…”
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Classification as autonomic versus sensory seizures
Published in Epilepsia (Copenhagen) (01-09-2019)Get full text
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CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas
Published in Acta neuropathologica communications (05-04-2024)“…A novel methylation class, "neuroepithelial tumor, with PLAGL1 fusion" (NET-PLAGL1), has recently been described, based on epigenetic features, as a…”
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