Angelman syndrome


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Angelman syndrome

[′aŋ·gəl·mən ‚sin‚drōm]
(medicine)
A genetic disorder that is caused by defects on the maternally derived chromosome 15, causing severe mental retardation, absence of speech, microcephaly, facial dysmorphism, seizures, neonatal hypotonia, ataxic movements, and inappropriate laughter.
References in periodicals archive ?
The parties will collaborate on the submission of the IND and management of the Phase 1/2 study in patients with Angelman syndrome.
'Angelman syndrome is a devastating neurological condition with no treatment options that represents a very significant unmet medical need,' said Emil D.
His nephew James, who is now 5 years old, was diagnosed with Angelman Syndrome at age 2.
Last February, the family launched a campaign where Kimia donated her thick golden locks to charity just so that people become aware of Angelman Syndrome -- Souzie said she knew only four other cases like Kimia in the emirates.
Angelman syndrome is associated with a microdeletion on chromosome 15 encompassing the ubiquitin protein ligase E3a (UBE3A) gene.
Much to the surprise of his family back in his hometown, he announced he would be taking on the City of Angels run with the aim of raising money for the Angelman Syndrome Support Education & Research Trust (ASSERT) -- a charity in which he is a patron.
Jack Gerrard, aged six, suffers from Angelman Syndrome, a severe genetic disorder which affects the nervous system, as well as epilepsy, and his NHS-funded wheelchair was unable to offer sufficient head or posture support.
Nothing wrong with that, except that doctors say her exuberance is the result of a genetic disorder called Angelman Syndrome (AS).
The patient with a cryptic unbalanced translocation t(14; 15)(q11.1; q11.2) causing monosomy for 15q11 and trisomy for 14q11 presented with an unusual Angelman syndrome with an extremely short stature and severe intellectual disability, lack of speech, and seizure ataxic gait [6].
He will be doing so to raise money for a cause especially close to his heart - the Angelman Syndrome Support Education & Research Trust (ASSERT) - a charity in which he is a patron.
OV101 previously received orphan drug designation for the treatment of Angelman syndrome.
Neuralstem is developing NSI-189, a small molecule in clinical development for major depressive disorder (MDD) and in preclinical development for Angelman syndrome, irradiation-induced cognitive impairment, Type 1 and Type 2 diabetes, and stroke.