Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients

To characterize epileptic phenotype, electroencephalography (EEG) features, and epileptic evolution in patients with ring 14 r(14) syndrome.

[1]  C. Marras,et al.  Epilepsy in ring 14 chromosome syndrome , 2012, Epilepsy & Behavior.

[2]  G. Neri,et al.  The ring 14 syndrome. , 2012, European journal of medical genetics.

[3]  E. Giustina,et al.  Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome , 2010, Epileptic disorders : international epilepsy journal with videotape.

[4]  J. H. Cross,et al.  Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005–2009 , 2010, Epilepsia.

[5]  D. Ville,et al.  Ring 14 chromosome presenting as early‐onset isolated partial epilepsy , 2009, Developmental medicine and child neurology.

[6]  G. Neri,et al.  The ring 14 syndrome: Clinical and molecular definition , 2009, American journal of medical genetics. Part A.

[7]  A. Battaglia,et al.  Spectrum of epilepsy and electroencephalogram patterns in Wolf–Hirschhorn syndrome: experience with 87 patients , 2009, Developmental medicine and child neurology.

[8]  Andrew Menzies,et al.  X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment , 2008, Nature Genetics.

[9]  A. Battaglia,et al.  Spectrum of epilepsy in terminal 1p36 deletion syndrome , 2008, Epilepsia.

[10]  G. Tachdjian,et al.  Terminal 14q32.33 deletion: Genotype–phenotype correlation , 2006, American journal of medical genetics. Part A.

[11]  M. Nowaczyk,et al.  FISH‐mapping of telomeric 14q32 deletions: Search for the cause of seizures , 2005, American journal of medical genetics. Part A.

[12]  Kazuyoshi Watanabe,et al.  Evolution of seizures and electroencephalographical findings in 23 cases of deletion type Angelman syndrome , 2005, Brain and Development.

[13]  G. Douaud,et al.  PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsy , 2004, Neurology.

[14]  Gord Fishell,et al.  Foxg1 Suppresses Early Cortical Cell Fate , 2004, Science.

[15]  T. Grigliatti,et al.  Different patterns of gene silencing in position-effect variegation. , 2003, Genome.

[16]  M. Morimoto,et al.  Ring Chromosome 14 with Localization‐related Epilepsy: Three Cases , 2003, Epilepsia.

[17]  D. Moazed,et al.  Heterochromatin and Epigenetic Control of Gene Expression , 2003, Science.

[18]  C. Kim,et al.  A study of EEG and epilepsy profile in Wolf–Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders , 2003, Brain and Development.

[19]  R. Hennekam,et al.  Further delineation of the chromosome 14q terminal deletion syndrome. , 2002, American journal of medical genetics.

[20]  J. Shay,et al.  Telomere Position Effect in Human Cells , 2001, Science.

[21]  J. Engel.  Classification of Epileptic Disorders , 2001, Epilepsia.

[22]  K. Kobayashi,et al.  Characteristic EEG findings in ring 20 syndrome as a diagnostic clue. , 1998, Electroencephalography and clinical neurophysiology.

[23]  V. van Heyningen,et al.  Position effect in human genetic disease. , 1998, Human molecular genetics.

[24]  Masashi Tanaka,et al.  Ring chromosome 20 and nonconvulsive status epilepticus. A new epileptic syndrome. , 1997, Brain : a journal of neurology.

[25]  H. Stroink,et al.  Evolution of Epilepsy and EEG Findings in Angelman Syndrome , 1997, Epilepsia.

[26]  Renzo Guerrini,et al.  Cortical myoclonus in angelman syndrome , 1996, Annals of neurology.

[27]  R. Haslam,et al.  Molecular analysis redefines three human chromosome 14 deletions , 1995, Human Genetics.

[28]  S. Ratcliffe,et al.  Inheritance of a ring 14 chromosome. , 1981, Journal of medical genetics.

[29]  C. Cabrol,et al.  [The Dr syndrome. Study of a further case (46, XX, 14r)]. , 1971, Annales de genetique.

[30]  F. Torricelli,et al.  Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review. , 1991, Annales de genetique.

[31]  C. Moraine,et al.  [The r(14) syndrome. 3 new observations]. , 1984, Annales de Genetique.