genetics
infantile spasms west syndrome epilepsy seizures hypsarrhythmia eeg
childhood epilepsy infant seizures developmental delay information myclonic baby acth
Genetic
Tests
CDKL5
Dissorders cyclin-dependent kinase-like 5
EPILEPTIC SEIZURES IN CDKL5
Not everyone with CDKL5 has epileptic seizures but the majority of people do seem to have them. We only know of one affected person who has severe learning difficulties and autism but who has never suffered with epileptic seizures
INFANTILE SPASMS (West Syndrome)
Infantile Spasms is a rare seizure seizure disorder in infants and early childhood. In CDKL5 it tends to start at a very early age: usually by three months, but certainly by five months of age. The seizures in the beginning may take many different forms: Star-shaped fits; episodes that appear to be a bit like choking; becoming rigid or stiff for a short period of time; unusual facial grimacing; or other subtle seizures.
X-linked infantile spasms
ARX
STK9
X-linked West syndrome, also called “X-linked infantile spasms” (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently we showed that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), which maps to the Xp21.3-p22.1 interval, and that the clinical picture in these patients can vary from mild mental retardation to severe ISSX with additional neurologic abnormalities. Here we report a study of two severely affected female patients with apparently de novo balanced X; autosome translocations, both disrupting the serine/threonine kinase 9 (STK9) gene, which maps distal to ARX in the Xp22.3 region. We show that STK9 is subject to X-inactivation in normal female somatic cells and is functionally absent in the two patients, because of preferential inactivation of the normal X. Disruption of the same gene in two unrelated patients who have identical phenotypes (consisting of early-onset severe infantile spasms, profound global developmental arrest, hypsarrhythmia, and severe mental retardation) strongly suggests that lack of functional STK9 protein causes severe ISSX and that STK9 is a second X-chromosomal locus for this disorder.
MAGI2
2008 SEP 8 - (NewsRx.com) -- "Infantile spasms (IS) is the most severe and common form of epilepsy occurring in the first year of life (see also Life Sciences). At least half of IS cases are idiopathic in origin, with others presumed to arise because of brain insult or malformation," investigators in Toronto, Canada report.
"Here, we identify a locus for IS by high-resolution mapping of 7q11.23-q21.1 interstitial deletions in patients. The breakpoints delineate a 500 kb interval within the MAGI2 gene (1.4 Mb in size) that is hemizygously disrupted in 15 of 16 participants with IS or childhood epilepsy, but remains intact in 11 of 12 participants with no seizure history," wrote C.R. Marshall and colleagues, University of Toronto.
The researchers concluded: "MAGI2 encodes the synaptic scaffolding protein membrane-associated guanylate kinase inverted-2 that interacts with Stargazin, a protein also associated with epilepsy in the stargazer mouse."
Marshall and colleagues published their study in American Journal of Human Genetics (Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. American Journal of Human Genetics, 2008;83(1):106-111).
For additional information, contact L.R. Osborne, University of Toronto, Dept. of Molecular Genetics, 100 College St., Toronto, ON M5S 1A8, Canada.
Molecular and DNA technology
Some very tiny changes in chromosomes can’t be seen even under the highest-powered microscope and are only found using molecular or DNA
technology, in particular a technique known as array-CGH, that shows gains and losses of tiny amounts of DNA throughout the genome or
another technique known as FISH, that allows chromosomes to be examined in greater detail. Inv dup del rings have only been identified so
far using FISH or array-CGH
Genetic
Tests
genetics
infantile spasms west syndrome epilepsy seizures hypsarrhythmia eeg
childhood epilepsy infant seizures developmental delay information myclonic baby acth
