Spasms, Infantile - Genetics
Research News and Information

Sunday, November 22, 2009

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies.

27 Sep 2009 BACKGROUND: Mutations of voltage-gated sodium channel alpha(II) gene, SCN2A, have been described in a wide spectrum of epilepsies. While inherited SCN2A mutations have been identified in multiple mild epilepsy cases, a de novo SCN2A-R102X mutation, ... Read more...

Aicardi syndrome in a male patient.

26 Jul 2009 Aicardi syndrome ( OMIM 304050) is defined by the clinical triad of early-onset infantile spasms, agenesis of the corpus callosum and chorioretinal lacunae. Almost all patients are females showing severe cognitive and physical disabilities, and ... Read more...

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

10 May 2009 Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx-deficient mice revealed several morphological anomalies, resembling ... Read more...

Latest indexed articles for 'Spasms, Infantile - Genetics'

These are the very latest articles for this heading:

• Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. 30 Oct 2009
• De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 27 Sep 2009
• Aicardi syndrome in a male patient. 26 Jul 2009
• Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. 10 May 2009
• Infantile spasms and Down syndrome: a new animal model. 29 Apr 2009
• [ARX gene mutations] 29 Apr 2009
• Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. 18 Mar 2009
• Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. 15 Mar 2009
• Two new familial severe infantile spasm syndromes in males. 18 Feb 2009
• A Feingold syndrome case with previously undescribed features and a new mutation. 30 Dec 2008
• Aicardi syndrome in a genotypic male. 29 Nov 2008
• [X-linked West syndrome] 9 Nov 2008
• Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. 24 Sep 2008
• Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG. 15 Sep 2008
• Key clinical features to identify girls with CDKL5 mutations. 10 Sep 2008
• Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms. 3 Sep 2008
• Incidence of epilepsies and epileptic syndromes among children in Navarre, Spain: 2002 through 2005. 30 Jul 2008
• CDKL5 disruption by t(X;18) in a girl with West syndrome. 26 Jun 2008
• Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. 17 Jun 2008
• Aicardi syndrome in monozygotic twins. 30 May 2008

See a longer list of these articles.

Technical information about 'Spasms, Infantile'

Definition: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)

Descriptor UI: D013036

Alternative terms: Spasms, Infantile; Infantile Spasm; Lightning Attacks; Attack, Lightning; Attacks, Lightning; Lightning Attack; West Syndrome; Syndrome, West; Infantile Spasms; Hypsarrhythmia; Hypsarrhythmias; Symptomatic Infantile Spasms; Infantile Spasm, Symptomatic; Infantile Spasms, Symptomatic; Spasm, Symptomatic Infantile; Spasms, Symptomatic Infantile; Symptomatic Infantile Spasm; Symptomatic West Syndrome; Syndrome, Symptomatic West; West Syndrome, Symptomatic; Nodding Spasm; Nodding Spasms; Spasm, Nodding; Spasms, Nodding; Salaam Attacks; Attacks, Salaam; Salaam Seizures; Seizures, Salaam; Spasmus Nutans; Cryptogenic Infantile Spasms; Cryptogenic Infantile Spasm; Infantile Spasm, Cryptogenic; Infantile Spasms, Cryptogenic; Spasm, Cryptogenic Infantile; Spasms, Cryptogenic Infantile; Cryptogenic West Syndrome; Syndrome, Cryptogenic West; West Syndrome, Cryptogenic; Jackknife Seizures; Jackknife Seizure; Seizure, Jackknife; Seizures, Jackknife;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; congenital; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C10.228.140.490.375.760;

History Note: 1977(1963)

Technical Notes: epileptic seizures only: do not confuse with SPASM + INFANT for non-epileptic seizures in inf such as in tetany or vitamin defic; check tag INFANT or INFANT, NEWBORN