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1. Full Text ADGRV1 is implicated in myoclonic epilepsy
by Myers, Kenneth A and Nasioulas, Steven and Boys, Amber and McMahon, Jacinta M and Slater, Howard and Lockhart, Paul and Sart, Desirée du and Scheffer, Ingrid E
Epilepsia, ISSN 0013-9580, 02/2018, Volume 59, Issue 2, pp. 381 - 388
Summary Objective To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes at the 5q14.3... 
MEF2C | ADGRV1 | Frings mouse | myoclonic epilepsy | chromosome 5q deletion syndrome | DEPENDENT PROBE AMPLIFICATION | SIMULTANEOUS DELETION | NEUROCUTANEOUS SYNDROME | SEVERE MENTAL-RETARDATION | ILAE COMMISSION | FEBRILE SEIZURES | CLINICAL NEUROLOGY | INFANTILE SPASMS | MUTATIONS | GENERALIZED EPILEPSY | Myoclonic epilepsy | Seizures (Medicine) | Gene mutations | Analysis | Genes | Genomics | Phenotypes | G protein-coupled receptors | Statistical analysis | Clonal deletion | Epilepsy | LGI1 protein | Heredity | Genomes | Mutation | Auditory stimuli | Seizures | Haploinsufficiency
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2. 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, ISSN 0013-9580, 11/2006, Volume 47, Issue 2, pp. 45 - 48
Severe Myoclonic Epilepsy in infancy (SMEI, or Dravet syndrome) is a drug‐resistant epilepsy that occurs in the first year of life of previously healthy... 
Severe myoclonic epilepsy of infants | Neuropsychology | Epilepsy | Dravet syndrome | epilepsy | TONIC-CLONIC SEIZURES | neuropsychology | severe myoclonic epilepsy of infants | ONSET | CLINICAL NEUROLOGY | CHILDREN | 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
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3. 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, ISSN 0013-9580, 10/2006, Volume 47, Issue 10, pp. 1737 - 1740
Purpose: Mutations of the α1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). Mutations of SCN1A have been found in 40 to... 
Mosaic mutation | Severe myoclonic epilepsy of infancy | Generalized epilepsy with febrile seizures plus | SCN1A gene | mosaic mutation | GENE | severe myoclonic epilepsy of infancy | SPECTRUM | SODIUM-CHANNEL | CLINICAL NEUROLOGY | generalized epilepsy with febrile seizures plus | 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
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4. 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, ISSN 0013-9580, 05/1998, Volume 39, Issue 5, pp. 508 - 512
Purpose: In severe myoclonic epilepsy of infancy (SME), multiple drug‐resistant focal and generalized seizure types occur. Lamotrigine (LTG), found effective... 
Severe myoclonic epilepsy | Seizure worsening | Lamotrigine | lamotrigine | CARBAMAZEPINE | INFANCY | CLINICAL NEUROLOGY | sever myoclonic epilepsy | seizure worsening | CHILDREN | 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
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5. 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, ISSN 0013-9580, 02/2008, Volume 49, Issue 2, pp. 343 - 348
Summary Severe myoclonic epilepsy in infancy (SMEI) is a rare, but severe disorder with seizures typically resistant to conventional antiepileptic drugs. The... 
Meta‐analysis | Pediatrics | Severe myoclonic epilepsy | Meta-analysis | TONIC-CLONIC SEIZURES | EFFICACY | meta-analysis | TOPIRAMATE | STIRIPENTOL | KETOGENIC DIET | CHILDHOOD | CLINICAL NEUROLOGY | severe myoclonic epilepsy | IN-VITRO | TOLERABILITY | pediatrics | MUTATIONS | ANTIEPILEPTIC DRUG | 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
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6. Full Text Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy
by Iannetti, Paola and Parisi, Pasquale and Spalice, Alberto and Ruggieri, Martino and Zara, Federico
Epilepsy Research, ISSN 0920-1211, 2009, Volume 85, Issue 1, pp. 89 - 95
Summary We report on the use of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14... 
Neurology | SMEI | Verapamil | Severe myoclonic epilepsy in infancy | Channelopathy | Calcium channel blocker | BLOOD-BRAIN-BARRIER | CLINICAL NEUROLOGY | BLOCKERS | SODIUM-CHANNEL MUTATIONS | INHIBITION | FEBRILE SEIZURES PLUS | METABOLISM | PHENYTOIN | GENE | SCN1A MUTATIONS | GENERALIZED EPILEPSY | Follow-Up Studies | Humans | Calcium Channel Blockers - therapeutic use | Anticonvulsants - therapeutic use | Child, Preschool | Epilepsies, Myoclonic - physiopathology | Electroencephalography - methods | Nerve Tissue Proteins - genetics | Mutation, Missense - genetics | Chromosomes, Human, Pair 2 - genetics | NAV1.1 Voltage-Gated Sodium Channel | Verapamil - therapeutic use | Adolescent | Female | Epilepsies, Myoclonic - drug therapy | Sodium Channels - genetics | Epilepsies, Myoclonic - genetics | Drug resistance in microorganisms | Myoclonic epilepsy | Neurons | Analysis | Seizures (Medicine) | Drug therapy
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7. Full Text De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy
by Claes, Lieve and Ceulemans, Berten and Audenaert, Dominique and Smets, Katrien and Löfgren, Ann and Del‐Favero, Jurgen and Ala‐Mello, Sirpa and Basel‐Vanagaite, Lina and Plecko, Barbara and Raskin, Salmo and Thiry, Paul and Wolf, Nicole I and Van Broeckhoven, Christine and De Jonghe, Peter
Human Mutation, ISSN 1059-7794, 06/2003, Volume 21, Issue 6, pp. 615 - 621
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a family history of a similar... 
epilepsy | severe myoclonic epilepsy of infancy | Dravet syndrome | SMEI | GEFS | SCN1A | generalized epilepsy with febrile seizures plus | Generalized epilepsy with febrile seizures plus | Epilepsy | Severe myoclonic epilepsy of infancy | FRONTAL-LOBE EPILEPSY | GAMMA-2-SUBUNIT | INHERITED EPILEPSY | POTASSIUM CHANNEL GENE | SODIUM-CHANNEL | NA+-CHANNEL | FEBRILE SEIZURES PLUS | GENETICS & HEREDITY | MISSENSE MUTATION | GENERALIZED EPILEPSY | SUBUNIT | Introns - genetics | Humans | Child, Preschool | Exons - genetics | Infant | Male | Mutation - genetics | Nerve Tissue Proteins - genetics | Mutation, Missense - genetics | NAV1.1 Voltage-Gated Sodium Channel | DNA Mutational Analysis | Adolescent | Age of Onset | Adult | Female | Sodium Channels - genetics | Child | Epilepsies, Myoclonic - genetics
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8. Full Text Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy
by Depienne, Christel and Arzimanoglou, Alexis and Trouillard, Oriane and Fedirko, Estelle and Baulac, Stéphanie and Saint‐Martin, Cécile and Ruberg, Merle and Dravet, Charlotte and Nabbout, Rima and Baulac, Michel and Gourfinkel‐An, Isabelle and Leguern, Eric
Human Mutation, ISSN 1059-7794, 04/2006, Volume 27, Issue 4, pp. 389 - 389
De novo mutations in the SCN1A gene, encoding the alpha1‐subunit of the neuronal voltage‐gated sodium channel Nav1.1, are the most frequent genetic cause of... 
severe myoclonic epilepsy of infancy | Dravet syndrome | mosaicism | SCN1A | Haplotypes | NAV1.1 Voltage-Gated Sodium Channel | DNA Mutational Analysis | Pedigree | Humans | Adult | Infant | Mosaicism | Sodium Channels - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Myoclonic Epilepsy, Juvenile - genetics
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9. 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, ISSN 0013-9580, 06/2007, Volume 48, Issue 6, pp. 1092 - 1096
Introduction: To determine the occurrence of neuroradiological abnormalities and to perform genotype–phenotype correlations in severe myoclonic epilepsy of... 
Genotype–phenotype correlations | Severe myoclonic epilepsy of infancy | MRI | Dravet syndrome | SCN1A | Genotype-phenotype correlations | severe myoclonic epilepsy of infancy | HIPPOCAMPAL | genotype-phenotype correlations | SPECTRUM | CLINICAL NEUROLOGY | 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
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10. Full Text Digenic mutations in severe myoclonic epilepsy of infancy
by Bolszak, Maija and Anttonen, Anna-Kaisa and Komulainen, Tuomas and Hinttala, Reetta and Pakanen, Salla and Sormunen, Raija and Herva, Riitta and Lehesjoki, Anna-Elina and Majamaa, Kari and Rantala, Heikki and Uusimaa, Johanna
Epilepsy Research, ISSN 0920-1211, 2009, Volume 85, Issue 2, pp. 300 - 304
Summary The clinical features of severe myoclonic epilepsy of infancy (SMEI) resemble those of mitochondrial diseases, although most patients have the sodium... 
Neurology | Severe myoclonic epilepsy of infancy | Mitochondria | Sodium channel | Mitochondrial polymerase gamma | ENCEPHALOPATHIES | DISORDERS | CLINICAL NEUROLOGY | GENE | MITOCHONDRIAL CYTOPATHY | DISEASE | ALPERS-SYNDROME | SPECTRUM | SCN1A | Mitochondrial Diseases - genetics | Mitochondrial Diseases - pathology | Microscopy, Electron, Transmission | Humans | Muscle, Skeletal - ultrastructure | Infant | Male | Myoclonic Epilepsy, Juvenile - complications | Mitochondria - pathology | Reverse Transcriptase Polymerase Chain Reaction | Mitochondria - ultrastructure | Myoclonic Epilepsy, Juvenile - genetics | DNA - genetics | Mitochondrial Diseases - complications | Mutation - physiology | Phenotype | DNA, Mitochondrial - genetics | Polymorphism, Restriction Fragment Length | Myoclonic Epilepsy, Juvenile - pathology | Muscle, Skeletal - pathology | Myoclonic epilepsy | Neurosciences | Liver diseases | Analysis | Genetic research | Genetic aspects | Mitochondrial DNA | Universities and colleges
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11. Full Text SCN1A Mutation Mosaicism in a Family with Severe Myoclonic Epilepsy in Infancy
by Morimoto, Masafumi and Mazaki, Emi and Nishimura, Akira and Chiyonobu, Tomohiro and Sawai, Yasuko and Murakami, Aki and Nakamura, Keiko and Inoue, Ikuyo and Ogiwara, Ikuo and Sugimoto, Tohru and Yamakawa, Kazuhiro
Epilepsia, ISSN 0013-9580, 10/2006, Volume 47, Issue 10, pp. 1732 - 1736
Purpose: To investigate the genetic background of familial severe myoclonic epilepsy in infancy (SMEI) cases. Methods: We performed mutation analyses of the... 
Severe myoclonic epilepsy in infancy | Mosaicism | SCN1A | GENE | mosaicism | SPECTRUM | severe myoclonic epilepsy in infancy | SODIUM-CHANNEL | CLINICAL NEUROLOGY | Japan - epidemiology | Humans | Mosaicism - statistics & numerical data | Parents | Child, Preschool | Epilepsies, Myoclonic - epidemiology | Male | Mutation - genetics | Epithelial Sodium Channels - genetics | DNA Mutational Analysis | Epilepsies, Myoclonic - diagnosis | Family | Epilepsies, Myoclonic - genetics | Siblings | Epilepsy | Genetic aspects
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12. Full Text Clinical spectrum of mutations in SCN1A gene: Severe myoclonic epilepsy in infancy and related epilepsies
by Fujiwara, Tateki
Epilepsy Research, ISSN 0920-1211, 2006, Volume 70, Issue 1, pp. 223 - 230
Severe myoclonic epilepsy in infancy (SMEI) manifests very frequent generalized tonic–clonic seizures (GTC), accompanied by myoclonic seizures, absences and... 
Intractable childhood epilepsies | Severe myoclonic epilepsy in infancy | Generalized tonic–clonic seizures | Voltage-gated sodium channel | Generalized tonic-clonic seizures | intractable childhood epilepsies | TONIC-CLONIC SEIZURES | ALPHA-1 SUBUNIT GENE | CLASSIFICATION | voltage-gated sodium channel | severe myoclonic epilepsy in infancy | CHILDHOOD | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | generalized tonic-clonic seizures | FEBRILE SEIZURES PLUS | ALPHA-1-SUBUNIT MUTATIONS | GRAND-MAL SEIZURES | NEURONAL SODIUM-CHANNEL | GENERALIZED EPILEPSY | Epilepsy, Tonic-Clonic - genetics | NAV1.1 Voltage-Gated Sodium Channel | Phenotype | Twins, Monozygotic - genetics | Humans | Age of Onset | Infant | Sodium Channels - genetics | Mutation | Nerve Tissue Proteins - genetics | Syndrome | Epilepsies, Myoclonic - genetics | Myoclonic epilepsy | Genetic aspects | Seizures (Medicine)
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13. Full Text A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy
by Ohmori, Iori and Ouchida, Mamoru and Miki, Takafumi and Mimaki, Nobuyoshi and Kiyonaka, Shigeki and Nishiki, Teiichi and Tomizawa, Kazuhito and Mori, Yasuo and Matsui, Hideki
Neurobiology of Disease, ISSN 0969-9961, 12/2008, Volume 32, Issue 3, pp. 349 - 354
Mutations of SCN1A, encoding the voltage-gated sodium channel α1 subunit, represent the most frequent genetic cause of severe myoclonic epilepsy in infancy... 
Genetic modifier | CACNB4 | Severe myoclonic epilepsy in infancy | Dravet syndrome | SCN1A
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14. 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, ISSN 0387-7604, 2008, Volume 30, Issue 10, pp. 629 - 635
Abstract The aim of this study was to establish strategies for prophylaxis against status epilepticus (SE) associated with high fever and for management of... 
Neurology | Severe myoclonic epilepsy in infancy (SMEI) | Barbiturate | Dravet syndrome | Prophylaxis | Potassium bromide (KBr) | Midazolam | Status epilepticus | Diazepam | Fever | TRIAL | SEIZURES | CLINICAL NEUROLOGY | 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
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15. Full Text Epileptic Encephalopathies with Myoclonic Seizures in Infants and Children (Severe Myoclonic Epilepsy and Myoclonic-Astatic Epilepsy)
by Guerrini, Renzo and Aicardi, Jean
Journal of Clinical Neurophysiology, ISSN 0736-0258, 11/2003, Volume 20, Issue 6, pp. 449 - 461
Myoclonic attacks are not characteristic of a specific syndrome. In infancy and early childhood, they are often observed in the context of syndromes that are... 
Myoclonus | Epileptic encephalopathies with myoclonic seizures | Benign myoclonic epilepsy | Severe myoclonic epilepsy | Myoclonic-astatic epilepsy | MANAGEMENT | CARDIOLOGY | GUIDELINES | benign myoclonic epilepsy | CLASSIFICATION | NEUROSCIENCES | SOCIETY | CLINICAL NEUROLOGY | severe myoclonic epilepsy | epileptic encephalopathies with myoclonic seizures | STROKE | myoclonus | ANTITHROMBOTIC THERAPY | myoclonic-astatic epilepsy | WARFARIN USE | Age Factors | Epilepsy | Humans | Child, Preschool | Epilepsies, Myoclonic - epidemiology | Epilepsies, Myoclonic - physiopathology | Evoked Potentials - physiology | Infant | Treatment Outcome | Electroencephalography | Epilepsies, Myoclonic - etiology | Seizures - therapy | Syndrome | Seizures - physiopathology | Seizures - etiology | Epilepsies, Myoclonic - therapy | Child | Infant, Newborn
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