journal cover

Epilepsy in chromosome aberrations

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie

Apr 6, 2005

N Bahi-BuissonC Chiron

Download from

Publisher
PubMed

Abstract

Epilepsy is among the most frequent finding in many chromosome aberrations. While most chromosome aberrations can be associated with different seizure types, there are few aberrations which feature specific seizures and EEG patterns. Among the 400 different chromosomal imbalances descri...read more

Mentioned in this Paper

Uncus of Hippocampus
Chromosomes, Human, Pair 20
PAFAH1B1 gene
Autosomal Chromosome Disorders
DU 14
Electroencephalography
Avant
Epilepsy
Inversion Mutation Abnormality
Complex (molecular entity)
Paper Details
References
  • References32
  • Citations10
1234
  • References32
  • Citations10
1

Feeds With Similar Papers

Chromosomal Deletion

Chromosomal deletion includes the loss of a gene sequence of DNA. The location and the genes deleted determines the significance of this abnormality. There are many identified genetic disorders that are a result from chromosomal deletion including cri du chat and Prader-Willi syndrome. Discover the latest research on chromosomal deletions here.

Down Syndrome

Down syndrome is a chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Discover the latest research on Down syndrome here.

Chromosomal Duplication

Chromosomal duplication is a result of extra genetic material within the area of the chromosome. The duplication may have no effect or may be expressed in the phenotype of that individual. Some duplications are thought to be of evolutionary selection. Discover the latest research on chromosomal duplication here.

Immunogenetics of Systemic Lupus Erythematosus

SLE is an autoimmune disease whose cause remains unclear and for which only symptomatic treatments currently exist. Linking the genetic and epigenetic assocations to molecular pathways and cellular phenotype is required to understand this disease and advance therapeutics. Find the latest research on the immunnogenetics of SLE here.

Epilepsy

Epilepsy is a chronic neurological disorder characterized by unprovoked and recurrent seizures. Discover the latest research on factors and mechanisms that underlie epilepsy here.

Systemic Lupus Erythematosus

Systemic lupus erythematosus is an autoimmune disorder which can affect and damage any organ system in the body. It has a diverse range of immunological manifestations and is more prominent in young women, with the exact etiology still unknown. Here is the latest research on systemic lupus erythematosus.

DCX-Related Disorders

Double Cortex (DCX) Related Disorders are X-linked inherited disorders that manifest as lissencephaly in males and subcortical band heterotopia in females. Discover the latest research on DCX-Related Disorders here.

Lennox-Gastaut Syndrome

Lennox-Gastaut syndrome is a rare epileptic syndrome characterized by multiple types of seizures, developmental delay, and cognitive impairment. It can be caused by trauma, infections, metabolic disorders, or genetic factors. Find the latest research on Lennox-Gastaut syndrome here.

Chromosomal Abnormalities

Chromosome abnormalities can be classified as either structural or numerical. Numerical abnormalities include duplications or deletion of a pair of chromosomes, such as Down Syndrome. Structural abnormalities include missing, extra or switched parts of a chromosome. Discover the latest research on chromosomal abnormalities here.

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Neonatal Seizures

Neonatal seizures are the most common neurological emergency in the neonatal period and are associated with a poor long-term outcome. Discover the latest research on neonatal seizures here.

Electroencephalography (MDS)

Electroencephalography (EEG) is an electrophysiological technique used to record electrical activity in the brain. It is commonly used in the diagnosis of epilepsy, sleep disorders, coma, encephalopathies, and brain death. Find the latest research on EEG here.

Electroencephalography

Electroencephalography (EEG) is an electrophysiological technique used to record electrical activity in the brain. It is commonly used in the diagnosis of epilepsy, sleep disorders, coma, encephalopathies, and brain death. Find the latest research on EEG here.

Related Papers

Brain & Development

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Brain & DevelopmentJanuary 26, 2005
Tomohiro KumadaYasushi Hamada
Brain & Development

Seizure and EEG patterns in Wolf-Hirschhorn (4p-) syndrome

Brain & DevelopmentJuly 19, 2005
A Battaglia, John C Carey
© 2020 Meta ULC. All rights reserved

Epilepsy in chromosome aberrations

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie

Apr 6, 2005

N Bahi-BuissonC Chiron

PMID: 15808438

DOI: 10.1016/j.arcped.2004.12.016

Abstract

Epilepsy is among the most frequent finding in many chromosome aberrations. While most chromosome aberrations can be associated with different seizure types, there are few aberrations which feature specific seizures and EEG patterns. Among the 400 different chromosomal imbalances descri...read more

Mentioned in this Paper

Uncus of Hippocampus
Chromosomes, Human, Pair 20
PAFAH1B1 gene
Autosomal Chromosome Disorders
DU 14
Electroencephalography
Avant
Epilepsy
Inversion Mutation Abnormality
Complex (molecular entity)

Feeds With Similar Papers

Chromosomal Deletion

Chromosomal deletion includes the loss of a gene sequence of DNA. The location and the genes deleted determines the significance of this abnormality. There are many identified genetic disorders that are a result from chromosomal deletion including cri du chat and Prader-Willi syndrome. Discover the latest research on chromosomal deletions here.

Down Syndrome

Down syndrome is a chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Discover the latest research on Down syndrome here.

Related Papers

Paper Details
References
  • References32
  • Citations10
1234
  • References32
  • Citations10
1

Download from

Publisher
PubMed
/papers/epilepsy-in-chromosome-aberrations/15808438