Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+?
暂无分享,去创建一个
F Andermann | I. Scheffer | F. Andermann | S. Berkovic | E. Andermann | S. Berkovic | A. Harvey | W P Whitehouse | R Singh | E Andermann | A S Harvey | D L Keene | M H Seni | K M Crossland | S F Berkovic | I E Scheffer | D. Keene | W. Whitehouse | K. Crossland | R. Singh | W. Whitehouse | M. Seni | Rita Singh | Kathryn M. Crossland
[1] C. Dravet. Les epilepsies graves de l'enfant , 1978 .
[2] P. Kellaway,et al. Proposal for Revised Clinical and Electroencephalographic Classification of Epileptic Seizures , 1981, Epilepsia.
[3] M. Bureau,et al. Epilepsie myoclonique grave de la premiere annee , 1982 .
[4] S. Yamashita,et al. A Clinical and EEG Study of Predominantly Unilateral Seizures in Children–Comparison with Severe Myoclonic Epilepsy in Infancy , 1987, The Japanese journal of psychiatry and neurology.
[5] D. Hurst. Severe myoclonic epilepsy of infancy. , 1987, Pediatric neurology.
[6] H. Oguni,et al. Clinical and Electroencephalographic Study of Severe Myoclonic Epilepsy in Infancy (Dravet) , 1987 .
[7] J. Aicardi,et al. Myoclonic Epilepsies of Childhood , 1971, Cleveland Clinic journal of medicine.
[8] T. Fujiwara,et al. A Peculiar State Observed in 4 Patients with Severe Myoclonic Epilepsy in Infancy , 1989, The Japanese journal of psychiatry and neurology.
[9] Jorge Eslava‐Cobos,et al. Experience with the International League Against Epilepsy Proposals for Classification of Epileptic Seizures and the Epilepsies and Epileptic Syndromes in a Pediatric Outpatient Epilepsy Clinic , 1989, Epilepsia.
[10] Masako Watanabe,et al. Clinicoelectrographic Concordance Between Monozygotic Twins with Severe Myoclonic Epilepsy in Infancy , 1990, Epilepsia.
[11] W. Renier,et al. Clinical and Neuropathologic Findings in a Case of Severe Myoclonic Epilepsy of Infancy , 1990, Epilepsia.
[12] C. Dravet. Severe myoclonic epilepsy in infants , 1992 .
[13] S. Berkovic,et al. Validation of a Questionnaire for Clinical Seizure Diagnosis , 1992, Epilepsia.
[14] I. Jambaqué,et al. Early diagnosis of severe myoclonic epilepsy in infancy , 1992, Brain and Development.
[15] T. Kurashige,et al. Proposal for Revised Classification of Epilepsies and Epileptic Syndromes , 1989, No to hattatsu = Brain and development.
[16] I. Scheffer,et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy , 1995, Nature Genetics.
[17] J G Nutt,et al. Episodic ataxias as channelopathies , 1995, Annals of neurology.
[18] Dennis E Bulman,et al. Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4 , 1996, Cell.
[19] I. Scheffer,et al. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. , 1997, Brain : a journal of neurology.
[20] D Bertrand,et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. , 1997, Human molecular genetics.
[21] Samuel F. Berkovic,et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B , 1998, Nature Genetics.
[22] S. Berkovic,et al. A potassium channel mutation in neonatal human epilepsy. , 1998, Science.
[23] Douglas C. Wallace,et al. Radicals r'aging , 1998, Nature Genetics.
[24] Mark Leppert,et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns , 1998, Nature Genetics.
[25] H. Doose,et al. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. , 1998, Neuropediatrics.
[26] D. Kullmann,et al. Ion channels and neurological disease: DNA based diagnosis is now possible, and ion channels may be important in common paroxysmal disorders , 1998, Journal of neurology, neurosurgery, and psychiatry.
[27] Robin J. Leach,et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family , 1998, Nature Genetics.
[28] D. Mouthon,et al. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. , 1999, American journal of human genetics.
[29] I. Scheffer,et al. Generalized epilepsy with febrile seizures plus: A common childhood‐onset genetic epilepsy syndrome , 1999, Annals of neurology.
[30] G. Dellatolas,et al. Delineation of cryptogenic Lennox–Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis , 1999, Epilepsy Research.
[31] M. Baulac,et al. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. , 1999, American journal of human genetics.
[32] A. Peiffer,et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24 , 1999, Annals of neurology.
[33] Stéphanie Baulac,et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 , 2000, Nature Genetics.
[34] I. Scheffer,et al. A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2. , 2000, American journal of human genetics.