Spasms, Infantile
Research News and Information

Monday, November 23, 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...

Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome.

30 Jul 2009 This study examines factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. The study population comprised 98 patients diagnosed with West syndrome and monitored for at least 3 years. During follow-up, West syndrome evolved to ... Read more...

The epileptic hypothesis: developmentally related arguments based on animal models.

30 Jul 2009 The significant morbidity linked to epileptic encephalopathies of childhood has prompted the need to identify and dissect the factors and mechanisms that contribute to the resultant functional regression. Although experiments specifically assessing ... Read more...

Latest indexed articles for 'Spasms, Infantile'

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
• Drug approved to treat infantile spasms. 29 Sep 2009
• Head nodding syndrome and river blindness: a parasitologic perspective. 29 Sep 2009
• De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 27 Sep 2009
• Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome. 30 Jul 2009
• The epileptic hypothesis: developmentally related arguments based on animal models. 30 Jul 2009
• Vigabatrin therapy in infantile spasms: solving one problem and inducing another? 30 Jul 2009
• Is the risk of vigabatrin-attributed visual field loss lower in infancy than in later life? 30 Jul 2009
• Aicardi syndrome in a male patient. 26 Jul 2009
• Developing an animal model for infantile spasms: pathogenesis, problems and progress. 29 Jun 2009
• [Non epileptic paroxysmal movements disorders in infant] 8 Jun 2009
• [A comparative study of conventional dose and low dose adrenocorticotrophic hormone therapy for West syndrome] 30 May 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
• [Temporal changes in intraocular pressure during adrenocorticotropic hormone therapy of two cases of West syndrome] 29 Apr 2009
• Aicardi syndrome: the importance of an ophthalmologist in its diagnosis. 29 Apr 2009
• Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome. 14 Apr 2009
• Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin. 30 Mar 2009
• Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis. 18 Mar 2009

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