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ISSN Approved Journal No: 2320-2882 | Impact factor: 7.97 | ESTD Year: 2013
Call For Paper - Volume 14 | Issue 4 | Month- April 2026
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Published Paper Details:
Paper Title
A Review Of Angelman Syndrome :A Neurogenetic Disorder
Authors
ANANTHAKRISHNAN S, SOUMYA R V, JULIA J J, PRASOBH G R
Keywords
Angelman syndrome, neuromuscular disorder, genetic disorder, UBE3A
Abstract
Angelman syndrome is an incurable neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. The maternally inherited UBE3A is rendered inactive by loss of the maternally expressed gene, which results in Angelman syndrome. The most frequent mechanism is the deletion of the maternal chromosomal region 15q11-q13. Surprisingly, duplication of the same chromosomal region, which affects >1-2% of all instances of autism spectrum disorder, is one of the few identified permanent genetic defects linked to the condition. While the general brain architecture and connection of neuronal projections in AS animal models appear to be largely normal, significant functional abnormalities are found at the level of context-dependent learning, as well as the decreased hippocampus and neocortical maturation.
IJCRT's Publication Details
Unique Identification Number - IJCRT2304608
Paper ID - 234497
Page Number(s) - e953-e958
Pubished in - Volume 11 | Issue 4 | April 2023
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Publisher Name - IJCRT | www.ijcrt.org | ISSN : 2320-2882
E-ISSN Number - 2320-2882
Cite this article
ANANTHAKRISHNAN S, SOUMYA R V, JULIA J J, PRASOBH G R, "A Review Of Angelman Syndrome :A Neurogenetic Disorder", International Journal of Creative Research Thoughts (IJCRT), ISSN:2320-2882, Volume.11, Issue 4, pp.e953-e958, April 2023, Available at :http://www.ijcrt.org/papers/IJCRT2304608.pdf
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Submit Manuscript Online Impact Factor: 7.97 Review Results : Within 02-03 Days Paper Publication : Within 02-03 Days
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ISSN: 2320-2882 Impact Factor: 7.97 and ISSN APPROVED Journal Starting Year (ESTD) : 2013
ISSN and 7.97 Impact Factor Details
ISSN: 2320-2882 Impact Factor: 7.97 and ISSN APPROVED Journal Starting Year (ESTD) : 2013
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