infantile spasm

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infantile spasm

[′in·fən‚tīl ′spaz·əm]
(medicine)
A type of seizure seen in infants and young children, characterized by a sudden, brief, massive myoclonic jerk.
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On this occasion, 11 works that report findings and advances in the study, diagnosis, treatment and prognosis of conditions such as cognitive impairment, spinocerebellar ataxia type 2, amyotrophic lateral sclerosis, West syndrome and Alzheimer's disease compete and Huntington.
"The role of Foxg1 in this transition process and its involvement in disorders such as the variants of the Rett and West syndrome suggests that some of the anomalies typical of these syndromes are generated by an alteration of the time scale with which the astroglial cells are generated and opens the way to possible gene therapies."
Commonly, infantile spasms are associated with hypoxic-ischemic insult, tuberous sclerosis and cortical malformations.10 Children may present with infantile spasms alone or in combinations of West syndrome. West syndrome is characterized by cognitive deterioration along with infantile spasms and hypsarrhythmia or modified hypsarrhythmia on EEG.11 Children with IS require extensive evaluation to identify the etiology and an EEG is essential to confirm the diagnosis of infantile spasm.
This blow comes just months after Steph and her 28-year-old partner, Lucas Tiesteel, were given the tragic news that Kain had a life-threatening and life-limiting condition, called West syndrome.
She was also found to have West syndrome - an epileptic condition with which only one in 250,000 people are diagnosed - causing her to have as many as 80 fits a day.
SCN2A -related disorders are inherited in an autosomal dominant manner with incomplete penetrance and variable expressivity, while de novo variants are not uncommon.[3] Pathogenic variants in SCN2A have been associated with a phenotypic spectrum that includes benign neonatal/infantile seizures, Ohtahara syndrome, epilepsy of infancy with migrating focal seizures, West syndrome, Lennox-Gastaut syndrome, myoclonic-atonic epilepsy, electrical status epilepticus during sleep, and intellectual disability and/or autism without epilepsy.[3] The diagnosis of a SCN2A -related disorder in this patient could explain his epilepsy as well as his autism and developmental delay.
MORE THAN 2% of children with West syndrome, temporal lobe epilepsy, or Panayiotopoulos syndrome initially were misdiagnosed with gastrointestinal disorders, according to the results of a large single-center retrospective study.
The teenager, a pupil of Airdrie's Mavisbank School, was profoundly disabled and suffered from West Syndrome since birth.
One-third of patients with SGS experience intractable neonatal seizures, and another 25% develop West syndrome [17].

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