Angelman Syndrome (AS) is a severe neurodevelopmental disorder, caused by the
neuronal absence of the ubiquitin protein ligase E3A (UBE3A). UBE3A promotes ubiquitin …

Angelman syndrome (AS) is a neurodevelopmental disorder associated with a unique type
of epilepsy. AS is caused by loss of function of the ubiquitin protein ligase E3A (UBE3A) …

Introduction: Angelman syndrome (AS) is a monogenic disorder with a prevalence of 1 in 10-
15,000 and is characterized by severe developmental delay, ataxia, and epilepsy. AS is …

A61K31/4353—Heterocyclic compounds having nitrogen as a ring hetero atom, eg
guanethidine or rifamycins having six-membered rings with one nitrogen as the only ring …

Angelman syndrome (AS) is an incurable neurodevelopmental disease characterized by
serious developmental delay, impaired speech, motor incoordination, and frequent atypical …

M. en C. Erick Josué Rodríguez Palma Page 1 CENTRO DE INVESTIGACIÓN Y DE
ESTUDIOS AVANZADOS DEL INSTITUTO POLITÉCNICO NACIONAL SEDE SUR …

Introduction Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are
neurodevelopmental disorders caused by loss of function of maternally expressed UBE3A …

Angelman syndrome is characterised by cognitive impairment with profound speech delay,
motor impairments and ataxic-like symptoms, EEG abnormalities and drug-resistant …

The human CACNA1A gene encodes the pore-forming α 1 subunit of Ca V 2.1 (P/Q-type)
calcium channels and is the locus for several neurological disorders, including episodic …

The past decade of research has yielded much success in the identification of risk genes for
Autism Spectrum Disorder (ASD), with many studies implicating loss-of-function (LoF) …