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 ?
Ovid recently completed a Phase 1 PK and safety study in patients with Fragile X syndrome and Angelman syndrome, demonstrating that OV101 has a similar safety and tolerability profile in adolescents as in young adults.
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).
At one-and-a-half years old, Erin was diagnosed with Angelman Syndrome, a rare and complex genetic disorder that affects the nervous system.
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.
According to the companies, the two additional grants primarily being funded by NIH/NCATS include Children's Hospital Corporation: Prospective study in Angelman syndrome as well as the University of Utah: Prospective study in Myotonic Dystrophy Type 1 to Determine Biomarkers and Clinical Endpoints.
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.
Colin's son from his relationship with model Kim Bordenave has Angelman syndrome - a rare genetic disorder that affects speech and mobility.
More recently, my best friend's son was diagnosed with Angelman syndrome.
James, who was born premature, also has suspected Angelman syndrome, a rare genetic condition which affects the nervous system.