Epilepsy in Angelman syndrome: A scoping review

D Samanta - Brain and Development, 2021 - Elsevier
Angelman Syndrome (AS) is characterized by severe developmental delays including
marked speech impairment, movement abnormalities (ataxia, tremor), and unique behaviors …

[HTML][HTML] Epilepsy in Angelman syndrome

K Pelc, SG Boyd, G Cheron, B Dan - Seizure, 2008 - Elsevier
Angelman syndrome is a neurogenetic disorder caused by lack of UBE3A gene expression
from the maternally inherited chromosome 15 due to various 15q11-q13 abnormalities. In …

Angelman syndrome: a review of clinical and genetic aspects

LAEM Laan, A v Haeringen, OF Brouwer - Clinical neurology and …, 1999 - Elsevier
This paper reviews Angelman syndrome (AS) with regard to the clinical features in
childhood and adulthood, epileptic seizures and EEG findings, neuroimaging studies and …

Neurological aspects of the Angelman syndrome

CA Williams - Brain and Development, 2005 - Elsevier
Angelman syndrome (AS) has emerged as an important neurogenetic syndrome due to its
relatively high prevalence and easier confirmation of the diagnosis by improved genetic …

Angelman syndrome (as, mim 105830)

G Van Buggenhout, JP Fryns - European Journal of Human Genetics, 2009 - nature.com
Angelman syndrome (AS) is a distinct neurogenetic syndrome, first described in 1965. The
phenotype is well known in infancy and adulthood, but the clinical features may change with …

UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome

Y Elgersma, M Sonzogni - Developmental Medicine & Child …, 2021 - Wiley Online Library
Half a century ago, Harry Angelman reported three patients with overlapping clinical
features, now well known as Angelman syndrome. Angelman syndrome is caused by …

Angelman syndrome—insights into a rare neurogenetic disorder

K Buiting, C Williams, B Horsthemke - Nature Reviews Neurology, 2016 - nature.com
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly,
severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic …

Genotype–phenotype correlations in Angelman syndrome

L Yang, X Shu, S Mao, Y Wang, X Du, C Zou - Genes, 2021 - mdpi.com
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss
of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the …

Myoclonus in Angelman syndrome

SF Pollack, OR Grocott, KA Parkin, AM Larson… - Epilepsy & Behavior, 2018 - Elsevier
Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the
maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited …

Neurologic manifestations of Angelman syndrome

RL Thibert, AM Larson, DT Hsieh, AR Raby… - Pediatric neurology, 2013 - Elsevier
Angelman syndrome is a neurogenetic disorder characterized by the loss or reduction of the
ubiquitin-protein ligase E3A enzyme. Angelman syndrome results from a deletion or …