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1. Full Text Severe myoclonic epilepsy in infancy: A systematic review and a meta‐analysis of individual patient data
by Kassaï, Behrouz and Chiron, Catherine and Augier, Ségolène and Cucherat, Michel and Rey, Elisabeth and Gueyffier, François and Guerrini, Renzo and Vincent, Julien and Dulac, Olivier and Pons, Gérard
Epilepsia (Copenhagen), ISSN 0013-9580, 02/2008, Volume 49, Issue 2, pp. 343 - 348
Meta‐analysis | Pediatrics | Severe myoclonic epilepsy | Meta-analysis | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Neurology | Biological and medical sciences | Medical sciences | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Nervous system (semeiology, syndromes) | Randomized Controlled Trials as Topic - statistics & numerical data | Follow-Up Studies | Humans | Anticonvulsants - therapeutic use | Child, Preschool | Male | Treatment Outcome | Dioxolanes - therapeutic use | Epilepsies, Myoclonic - diagnosis | Adolescent | Placebos | Publication Bias | Adult | Female | Databases as Topic - statistics & numerical data | Epilepsies, Myoclonic - drug therapy | Odds Ratio | Child | Anticonvulsants | Analysis | Epilepsy | Index Medicus
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2. Full Text Brain MRI Findings in Severe Myoclonic Epilepsy in Infancy and Genotype–Phenotype Correlations
by Striano, Pasquale and Mancardi, Maria Margherita and Biancheri, Roberta and Madia, Francesca and Gennaro, Elena and Paravidino, Roberta and Beccaria, Francesca and Capovilla, Giuseppe and Bernardina, Bernardo Dalla and Darra, Francesca and Elia, Maurizio and Giordano, Lucio and Gobbi, Giuseppe and Granata, Tiziana and Ragona, Francesca and Guerrini, Renzo and Marini, Carla and Mei, Davide and Longaretti, Francesca and Romeo, Antonino and Siri, Laura and Specchio, Nicola and Vigevano, Federico and Striano, Salvatore and Tortora, Fabio and Rossi, Andrea and Minetti, Carlo and Dravet, Charlotte and Gaggero, Roberto and Zara, Federico
Epilepsia (Copenhagen), ISSN 0013-9580, 06/2007, Volume 48, Issue 6, pp. 1092 - 1096
Genotype–phenotype correlations | Severe myoclonic epilepsy of infancy | MRI | Dravet syndrome | SCN1A | Genotype-phenotype correlations | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Pharmacology. Drug treatments | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Anticonvulsants. Antiepileptics. Antiparkinson agents | Medical sciences | Neuropharmacology | Nervous system (semeiology, syndromes) | Severity of Illness Index | Humans | Child, Preschool | Genotype | Infant | Male | Epilepsies, Myoclonic - pathology | Hippocampus - pathology | Chromatography, High Pressure Liquid | Mutation - genetics | Nerve Tissue Proteins - genetics | Syndrome | NAV1.1 Voltage-Gated Sodium Channel | Phenotype | Epilepsies, Myoclonic - diagnosis | Magnetic Resonance Imaging - statistics & numerical data | Adolescent | Brain - pathology | Adult | Female | Retrospective Studies | Sodium Channels - genetics | Child | Epilepsies, Myoclonic - genetics | Genetic aspects | Magnetic resonance imaging | Analysis | Epilepsy | Index Medicus
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3. Full Text De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
by Claes, Lieve and Del-Favero, Jurgen and Ceulemans, Berten and Lagae, Lieven and Van Broeckhoven, Christine and De Jonghe, Peter
American journal of human genetics, ISSN 0002-9297, 2001, Volume 68, Issue 6, pp. 1327 - 1332
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Conserved Sequence - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Mutation, Missense - genetics | Nerve Tissue Proteins - chemistry | DNA Mutational Analysis | Base Sequence | Female | Child | Frameshift Mutation - genetics | Epilepsies, Myoclonic - genetics | Amino Acid Sequence | Introns - genetics | Exons - genetics | Paternity | Mutation - genetics | Nerve Tissue Proteins - genetics | Microsatellite Repeats - genetics | NAV1.1 Voltage-Gated Sodium Channel | Phenotype | Belgium | Polymorphism, Restriction Fragment Length | Sodium Channels - chemistry | Sodium Channels - genetics | Codon, Nonsense - genetics | Genetic research | Genetic disorders | Diagnosis | Research | Spasms, Infantile | Analysis | Severe myoclonic epilepsy of infancy | SCN1A gene | Index Medicus
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4. Full Text Severe Myoclonic Epilepsy of Infants (Dravet Syndrome): Natural History and Neuropsychological Findings
by Wolff, Markus and Cassé‐Perrot, Catherine and Dravet, Charlotte
Epilepsia (Copenhagen), ISSN 0013-9580, 11/2006, Volume 47, Issue 2, pp. 45 - 48
Severe myoclonic epilepsy of infants | Neuropsychology | Epilepsy | Dravet syndrome | Mental Disorders - epidemiology | Prospective Studies | Comorbidity | Humans | Child, Preschool | Epilepsies, Myoclonic - epidemiology | Infant | Mutation - genetics | Cognition Disorders - diagnosis | Epithelial Sodium Channels - genetics | Neuropsychological Tests - statistics & numerical data | Epilepsies, Myoclonic - diagnosis | Adolescent | Functional Laterality - physiology | Mental Disorders - diagnosis | Child | Cognition Disorders - epidemiology | Longitudinal Studies | Epilepsies, Myoclonic - genetics | Analysis | Infants | Index Medicus
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5. Full Text Antiepileptic drugs for the treatment of infants with severe myoclonic epilepsy
by Brigo, Francesco and Brigo, Francesco and Igwe, Stanley C and Bragazzi, Nicola Luigi
Cochrane library, ISSN 1469-493X, 05/2017, Volume 2020, Issue 6, pp. CD010483 - CD010483
Antiepileptic drugs for particular epilepsy syndromes | Epilepsy | Epilepsies, Myoclonic | Severe Myoclonic Epilepsy in Infancy (SMEI) | Patient Dropouts | Dioxolanes | Randomized Controlled Trials as Topic | Neurology | Anticonvulsants | Epilepsy: drugs for specific syndromes | Child health | Drugs for specific syndromes | Medicine General & Introductory Medical Sciences | Antiepileptic drugs | Seizures | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Dioxolanes - adverse effects | Patient Dropouts - statistics & numerical data | Humans | Seizures - drug therapy | Anticonvulsants - therapeutic use | Child, Preschool | Male | Dioxolanes - therapeutic use | Anticonvulsants - adverse effects | Adolescent | Female | Epilepsies, Myoclonic - drug therapy | Child | Index Medicus
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6. Full Text Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy
by Marini, Carla and Mei, Davide and Helen Cross, J and Guerrini, Renzo
Epilepsia (Copenhagen), ISSN 0013-9580, 10/2006, Volume 47, Issue 10, pp. 1737 - 1740
Mosaic mutation | Severe myoclonic epilepsy of infancy | Generalized epilepsy with febrile seizures plus | SCN1A gene | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Pharmacology. Drug treatments | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Anticonvulsants. Antiepileptics. Antiparkinson agents | Medical sciences | Neuropharmacology | Nervous system (semeiology, syndromes) | Genetic Testing | Humans | Male | Mutation - genetics | Phenotype | Epithelial Sodium Channels - genetics | Epilepsies, Myoclonic - diagnosis | Family | Female | Mosaicism | Fathers | Epilepsies, Myoclonic - genetics | Siblings | Epilepsy | Genetic aspects | Index Medicus
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7. Full Text The core Dravet syndrome phenotype
by Dravet, Charlotte
Epilepsia (Copenhagen), ISSN 0013-9580, 04/2011, Volume 52, Issue 2, pp. 3 - 9
SMEI | SMEIB | Evolution | Diagnosis | Severe myoclonic epilepsy in infancy | Seizures | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | NAV1.1 Voltage-Gated Sodium Channel | Phenotype | Epilepsies, Myoclonic - diagnosis | Humans | Epilepsies, Myoclonic - therapy | Sodium Channels - genetics | Nerve Tissue Proteins - genetics | Syndrome | Epilepsies, Myoclonic - genetics | Genetic aspects | Seizures (Medicine) | Mental illness | Analysis | Epilepsy | Index Medicus
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8. Full Text The Natural History of Myoclonic Astatic Epilepsy (Doose Syndrome) and Lennox‐Gastaut Syndrome
by Stephani, Ulrich
Epilepsia (Copenhagen), ISSN 0013-9580, 11/2006, Volume 47, Issue 2, pp. 53 - 55
Multiple seizure types | Severe myoclonic epilepsy in infancy | Review | Myoclonic astatic epilepsy | Atypical benign partial epilepsy/pseudo‐Lennox syndrome | Lennox‐Gastaut syndrome | Natural history | Lennox-Gastaut syndrome | Atypical benign partial epilepsy/pseudo-Lennox syndrome | Diagnosis, Differential | Prognosis | Comorbidity | Humans | Child, Preschool | Epilepsies, Myoclonic - epidemiology | Terminology as Topic | Epilepsies, Myoclonic - classification | Infant | Epilepsy - classification | Electroencephalography - statistics & numerical data | Syndrome | Epilepsy - diagnosis | Epilepsy - epidemiology | Cognition Disorders - diagnosis | Epilepsies, Myoclonic - diagnosis | Intellectual Disability - diagnosis | Age of Onset | Cognition Disorders - epidemiology | Intellectual Disability - epidemiology | Child development | Epilepsy | Index Medicus
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9. Full Text Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy
by Vlaskamp, Danique R.M and Rump, Patrick and Callenbach, Petra M.C and Vos, Yvonne J and Sikkema-Raddatz, Birgit and van Ravenswaaij-Arts, Conny M.A and Brouwer, Oebele F
European journal of paediatric neurology, ISSN 1090-3798, 2016, Volume 20, Issue 3, pp. 489 - 492
Pediatrics | Neurology | STX1B | Genetics | Doose syndrome | Myoclonic astatic epilepsy | Aetiology | case report | fever | chromosome 16p | severe myoclonic epilepsy in infancy | missense mutation | gene deletion | febrile convulsion | problem behavior | syntaxin 1A | genetic predisposition | synaptic transmission | neurotransmitter | human | syntaxin 1 | diagnosis | intellectual impairment | haploinsufficiency | adult | male | infantile spasm | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Haploinsufficiency - genetics | Syntaxin 1 - genetics | Epilepsies, Myoclonic - diagnosis | Humans | Adolescent | Male | Epilepsies, Myoclonic - genetics | Sequence Deletion - genetics | Genetic aspects | Seizures (Medicine) | Genes | Analysis | Epilepsy | Index Medicus
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10. Full Text Severe myoclonic epilepsy in infants – a review based on the Tokyo Women's Medical University series of 84 cases
by Oguni, Hirokazu and Hayashi, Kitami and Awaya, Yutaka and Fukuyama, Yukio and Osawa, Makiko
2001, Volume 23, Issue 7
Borderland group | Myoclonus | Fever-sensitive grand mal | Fever sensitivity | Myoclonic seizures | Severe myoclonic epilepsy in infants | Constant light sensitivity | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Neurology | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Infant | Electroencephalography | Epilepsies, Myoclonic - diagnosis | Tokyo | Humans | Index Medicus
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11. Full Text Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy
by Guerrini, Renzo and Dravet, Charlotte and Genton, Pierre and Belmonte, Anna and Kaminska, Anna and Dulac†, Olivier
Epilepsia (Copenhagen), ISSN 0013-9580, 05/1998, Volume 39, Issue 5, pp. 508 - 512
Severe myoclonic epilepsy | Seizure worsening | Lamotrigine | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | Anticonvulsants. Antiepileptics. Antiparkinson agents | Medical sciences | Neuropharmacology | Pharmacology. Drug treatments | Acute Disease | Epilepsies, Partial - chemically induced | Triazines - therapeutic use | Comorbidity | Epilepsies, Partial - drug therapy | Epilepsy, Generalized - epidemiology | Humans | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - epidemiology | Male | Epilepsies, Myoclonic - chemically induced | Anticonvulsants - adverse effects | Epilepsy, Generalized - drug therapy | Adolescent | Adult | Female | Triazines - adverse effects | Epilepsies, Myoclonic - drug therapy | Epilepsies, Partial - epidemiology | Epilepsy, Generalized - chemically induced | Drug Therapy, Combination | Child | Index Medicus
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12. Full Text Management of and prophylaxis against status epilepticus in children with severe myoclonic epilepsy in infancy (SMEI; Dravet syndrome) – A nationwide questionnaire survey in Japan
by Tanabe, Takuya and Awaya, Yutaka and Matsuishi, Toyojiro and Iyoda, Kuniaki and Nagai, Toshisaburo and Kurihara, Mana and Yamamoto, Kazuya and Minagawa, Kimio and Maekawa, Kihei
Brain & development (Tokyo. 1979), ISSN 0387-7604, 2008, Volume 30, Issue 10, pp. 629 - 635
Neurology | Severe myoclonic epilepsy in infancy (SMEI) | Barbiturate | Dravet syndrome | Prophylaxis | Potassium bromide (KBr) | Midazolam | Status epilepticus | Diazepam | Fever | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Fever - complications | Humans | Japan | Status Epilepticus - etiology | Anticonvulsants - therapeutic use | Child, Preschool | Status Epilepticus - drug therapy | Infant | Male | Data Collection | Epilepsies, Myoclonic - complications | Adolescent | Status Epilepticus - prevention & control | Female | Surveys and Questionnaires | Epilepsies, Myoclonic - drug therapy | Retrospective Studies | Child | Surveys | Myoclonic epilepsy | Anticonvulsants | Index Medicus
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13. Full Text The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009
by Bayat, Allan and Hjalgrim, Helle and Møller, Rikke S
Epilepsia (Copenhagen), ISSN 0013-9580, 04/2015, Volume 56, Issue 4, pp. e36 - e39
Epileptic encephalopathy | Severe myoclonic epilepsy in infancy | SCN1A mutation | Dravet syndrome | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Humans | NAV1.1 Voltage-Gated Sodium Channel - genetics | Child, Preschool | Epilepsies, Myoclonic - epidemiology | Male | Mutation - genetics | Incidence | Epilepsies, Myoclonic - diagnosis | Denmark - epidemiology | Female | Retrospective Studies | Child | Population Surveillance - methods | Cohort Studies | Epilepsies, Myoclonic - genetics | Medicine, Experimental | Medical research | Babies | Mutation | Index Medicus
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