Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+?

Summary:  Purpose: Severe myoclonic epilepsy of infancy (SMEI) is an intractable epilepsy of early childhood of unknown etiology. It is often associated with a family history of seizure disorders, but epilepsy phenotypes have not been well described. We sought to characterize the seizure phenotypes of relatives to better understand to the genetic basis of SMEI.

[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.