Epilepsy and chromosomal abnormalities.

Italian Journal of Pediatrics
Giovanni Sorge, Anna Sorge


Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders. Detailed clinical assessment, electrophysiological studies, survey of the literature. In some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy. A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques--such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities.


Sep 15, 1991·American Journal of Medical Genetics·K MurayamaA S Aylsworth
Mar 1, 1991·Developmental Medicine and Child Neurology·C E StafstromK E Wisniewski
Feb 1, 1991·American Journal of Medical Genetics·S A MusumeciC A Tassinari
Aug 1, 1990·American Journal of Medical Genetics·R MatalonI M Rosenthal
Feb 1, 1990·Journal of Medical Genetics·G L FrancisS T Fisher
Nov 1, 1985·Australian Paediatric Journal·R H BurnellG R Sutherland
Jan 1, 1988·Acta Neuropathologica·K JellingerA K Percy
May 1, 1986·American Journal of Medical Genetics·M S WatsonW R Breg
Sep 1, 1972·Journal of Medical Genetics·L AtkinsM Salam
Jun 1, 1981·Journal of Medical Genetics·S B RileyJ Syme
Aug 1, 1995·Journal of Medical Genetics·K M Keppler-NoreuilS L Rutledge
Nov 12, 1994·BMJ : British Medical Journal·E D Williams
Aug 1, 1994·The British Journal of Psychiatry : the Journal of Mental Science·C SpellerS Kanagaratum
May 15, 1994·American Journal of Medical Genetics·A BottaniA Schinzel
Apr 1, 1993·Journal of Child Neurology·M E LancmanT A Brotherton
Oct 1, 1996·Pediatric Neurology·B V VaughnM B Tennison
Jan 1, 1997·Nature Genetics·T KishinoJ Wagstaff
Apr 1, 1997·Electroencephalography and Clinical Neurophysiology·D I RubinD W Klass
Jun 1, 1997·Brain : a Journal of Neurology·Y InoueY Takahashi
Nov 28, 1997·Clinical Endocrinology·M BozzolaS Scappaticci
Apr 17, 1998·Brain & Development·M EliaM Cammarata
Nov 27, 1998·Pediatric Neurology·W O TatumP Genton
Feb 7, 2001·Developmental Medicine and Child Neurology·E Knight-JonesK Martin
Sep 20, 2000·American Journal of Medical Genetics·M ZollinoG Neri
Nov 14, 2000·American Journal of Medical Genetics·L MauceriL Pavone
Feb 13, 2001·Annales de génétique·D García-CruzJ Sánchez-Corona
Feb 22, 2001·Seizure : the Journal of the British Epilepsy Association·M SabaratnamS K Gangadharan
Jun 26, 2001·Epilepsia·M EliaG F Ayala
Oct 2, 2001·Brain & Development·H Goldberg-SternT J Degrauw
Jan 11, 2002·Lancet·L G Shaffer, H A Heilstedt
Nov 28, 2002·Brain & Development·Gemma IncorporaLorenzo Pavone
Apr 18, 2003·Lancet·Nancy J Roizen, David Patterson
Sep 17, 2003·Clinical Genetics·V ShashiW L Bell

❮ Previous
Next ❯


Dec 27, 2011·Pediatric Neurology·Mario Mastrangelo, Vincenzo Leuzzi
Nov 9, 2011·Seminars in Pediatric Neurology·Karen L Skjei, Dennis J Dlugos
Sep 24, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Mario MastrangeloVincenzo Leuzzi
Jul 5, 2011·Pediatric Neurology·Radhika DhamijaElaine Wirrell
Feb 19, 2014·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Angelika J DawsonKarine Hovanes
Aug 15, 2015·Journal of Child Neurology·Semra Gürsoy, Derya Erçal
May 24, 2014·Expert Review of Neurotherapeutics·Athanasios Covanis
Jun 10, 2011·Expert Review of Neurotherapeutics·Devender BhallaPierre-Marie Preux
Jun 2, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Agnethe BerglundClaus Højbjerg Gravholt
Jul 12, 2018·Clinical Genetics·K A MyersD A Dyment

❮ Previous
Next ❯

Methods Mentioned

chromosomal aberrations
chromosomal aberration

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Absence Epilepsy

Absence epilepsy is a common seizure disorder in children which can produce chronic psychosocial sequelae. Discover the latest research on absence epilepsies here.

Benign Rolandic Epilepsy

Benign Rolandic epilepsy is a partial idiopathic epilepsy of childhood presenting with a nocturnal seizure and with a typical EEG showing centrotemporal spike and multifocal or generalized sharp slow waves. Here is the latest research.


Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.


Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Brain developing: Influences & Outcomes

This feed focuses on influences that affect the developing brain including genetics, fetal development, prenatal care, and gene-environment interactions. Here is the latest research in this field.