Results 61 to 70 of about 9,569 (209)
UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome [PDF]
, 2021 Half a century ago, Harry Angelman reported three patients with overlapping clinical features, now well known as Angelman syndrome. Angelman syndrome is caused by mutations affecting the maternally inherited UBE3A gene, which encodes an E3-ubiquitin ...
Elgersma, Y. (Ype) +6 more
core +1 more source
Genetic landscape of patients with atypical absence status epilepticus: A systematic review
Epilepsia Open, EarlyView.Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu +2 more
wiley +1 more source
Angelman Syndrome: A Case Report
, 2016 How to Cite This Article: Ashrafzadeh F, Sadrnabavi A, Akhondian J, Beiraghi Toosi M, Mohammadi MH, Hassanpour K. Angelman Syndrome: A Case Report. Iran J Child Neurol.
MOHAMMADI, Mohammadhassan +5 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Objective Lennox–Gastaut syndrome (LGS) is a drug‐resistant developmental and epileptic encephalopathy (DEE). Preclinical drug development for LGS is constrained by a lack of syndrome‐relevant animal models. We aimed to evaluate a Gabrb3+/D120N knock‐in (KI) mouse model of LGS by quantifying atypical absence seizures and epileptic spasms and ...
Thomas Harman +5 more
wiley +1 more source
Epilepsy in Angelman’s Syndrome
Pediatric Neurology Briefs, 2009 The natural history and response to treatment of epilepsy in a large population of Angelman syndrome (AS) patients were studied by detailed electronic survey conducted through the AS Foundation by pediatric neurologists at Massachusetts General Hospital, Boston; Texas Southwestern Medical Center; and Rady Childrens Hospital, San Diego, CA.
openaire +4 more sources
Muscle &Nerve, EarlyView.ABSTRACT Introduction/Aims The patient experience of Becker muscular dystrophy (BMD) is not well understood, making it difficult to evaluate the conceptual relevance of proposed patient‐reported outcome (PRO) measures. This study aimed to conceptualize the patient experience of BMD and evaluate content validity and perceptions of meaningful changes of ...
Abby Bronson +6 more
wiley +1 more source
Clinical Genetics, EarlyView.FIG4 is essential for lysosomal homeostasis. FIG4‐related disorders present as a continuous spectrum from the juvenile lethality in Yunis‐Varon syndrome to an increased risk of amyotrophic lateral sclerosis (ALS) in adult life. FIG4‐related disorders comprise a novel group of disorders of lysosomal homeostasis and can be classified into severe ...
Pankaj Prasun, Matthew Rasberry
wiley +1 more source
Effect of epilepsy on autism symptoms in Angelman syndrome
, 2018 Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology or to the direct effects of seizures is a topic of ongoing debate.
Kanavin, Oivind J +5 more
core +1 more source
, 2023 Angelman syndrome (AS) is a rare disorder characterized by ataxia, ambulation difficulties, muteness, excessive laughter and seizures. Most children diagnosed with (AS) have an abnormal head computed tomography scan, an abnormal electroencephalogram, and an abnormal pneumoencephalogram.
Rohini Motwani, Hare Krishna
openaire +3 more sources
Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
wiley +1 more source