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Epilepsy Research, ISSN 0920-1211, 11/2018, Volume 147, pp. 22 - 31
Journal Article
JOURNAL OF NUCLEAR MEDICINE, ISSN 0161-5505, 03/2005, Volume 46, Issue 3, pp. 540 - 547
Studies in animal models and epileptic patients have led to the suggestion that the basal ganglia (BG) are involved in seizures. PET with... 
REVERSIBLE PARKINSONISM | ACTIVATION | basal ganglia | DOPAMINERGIC FUNCTION | F-18-fluoro-L-DOPA | VALPROATE | PERFORMANCE EVALUATION | epileptic syndromes | HYPOMETABOLISM | RING CHROMOSOME-20 | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | PET | TEMPORAL-LOBE SEIZURES | PROGRESSION | PARKINSONS-DISEASE
Journal Article
CLINICAL GENETICS, ISSN 0009-9163, 07/1993, Volume 44, Issue 1, pp. 26 - 31
A ring chromosome 20 in a male infant with epileptic seizures, mental and somatic growth retardation, and behavioural disturbances is described. Conventional... 
TELOMERIC SEQUENCES | ANOMALIES | RESOLUTION | GENETICS & HEREDITY | SYNDROME | CHROMOSOME-20 | CHILD | PRIMED IN-SITU LABELING | RING CHROMOSOME | MOSAICISM
Journal Article
Epileptic Disorders, ISSN 1294-9361, 04/2006, Volume 8, Issue 1, pp. S23 - S32
The identification of an etiology in children and adults with mental deficiency is a major challenge and needs a comprehensive clinical approach and... 
Angelman syndrome | Wolf-Hirschorn | Ring chromosome 20 | Genetic syndromes and epilepsy | AUTISM | ABNORMALITIES | EEG | ANGELMAN-SYNDROME | UBE3A | CLINICAL NEUROLOGY | CHILDREN | ring chromosome 20 | FRAGILE-X-SYNDROME | genetic syndromes and epilepsy | DUPLICATION | RING CHROMOSOME-20 | GENERALIZED EPILEPSY
Journal Article
MEDICAL SCIENCE MONITOR, ISSN 1234-1010, 03/2005, Volume 11, Issue 3, pp. CS9 - CS15
Background: The influence of the marker chromosome on reproductive failure is difficult to assess, especially in the case of low-rate mosaicism. The aim of our... 
MEDICINE, RESEARCH & EXPERIMENTAL | sperm chromosomes | STRUCTURALLY ABNORMAL CHROMOSOMES | CLINICAL FINDINGS | SUPERNUMERARY RING CHROMOSOME-20 | mosaicism | FISH | IN-SITU HYBRIDIZATION | UNIPARENTAL DISOMY | CAT EYE SYNDROME | INSITU HYBRIDIZATION | PRENATAL-DIAGNOSIS
Journal Article
PRENATAL DIAGNOSIS, ISSN 0197-3851, 02/1995, Volume 15, Issue 2, pp. 123 - 127
We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally:... 
ORIGIN | MARKER CHROMOSOME | FISH | RING CHROMOSOME 20 | FOLLOW-UP | FLUORESCENCE INSITU HYBRIDIZATION | TRISOMY 20 | MOSAICISM | PRENATAL-DIAGNOSIS | OBSTETRICS & GYNECOLOGY
Journal Article
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, ISSN 0012-1622, 01/1994, Volume 36, Issue 1, pp. 70 - 73
The authors report an ii-year-old girl with epilepsy, poor school-performance and minor behavioural disorders. The epilepsy is characterized by complex partial... 
PEDIATRICS | CLINICAL NEUROLOGY | EPILEPSY | Humans | Epilepsy, Absence - genetics | Female | Mosaicism - genetics | Chromosomes, Human, Pair 20 | Ring Chromosomes | Child | Mental Disorders - etiology | Index Medicus
Journal Article
EPILEPSIES, ISSN 1149-6576, 01/2008, Volume 20, Issue 1, pp. 9 - 26
After a first clinical manifestation, can the EEG rivalize with the clinical evaluation in bringing the informations needed for precise diagnosis and early... 
epilepsy | COMPLEX | clinical assessment | EARLY INFANCY | VERTEX SPIKES | EEG | diagnosis | BENIGN PARTIAL EPILEPSY | NORMAL-CHILDREN | prognosis | CLINICAL NEUROLOGY | INFANTILE EPILEPSY | SEIZURES | PATTERN | MYOCLONUS | RING CHROMOSOME-20
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 2014, Volume 10, Issue 5, pp. 283 - 292
Journal Article
Italian journal of pediatrics, ISSN 1720-8424, 2010, Volume 36, Issue 1, pp. 36 - 36
Journal Article
Journal Article
ARCHIVES DE PEDIATRIE, ISSN 0929-693X, 04/2005, Volume 12, Issue 4, pp. 449 - 458
Journal Article
Journal Article
Nature Clinical Practice Neurology, ISSN 1745-834X, 09/2007, Volume 3, Issue 9, pp. 505 - 516
Journal Article
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