Results 91 to 100 of about 1,536,733 (206)

Motor Impairments in Angelman Syndrome

, 2004
Of 33 children and adolescents (median age 6 years) investigated for learning disability, epilepsy, and motor dysfunction to detect suspected Angelman syndrome (AS), in a study at Goteborg University, Sweden, 23 fulfilled criteria for ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

ANGELMAN SYNDROME: THE CLINICAL CASE OF COMPLEX CHROMOSOMAL ABERRATION IN A CHILD WITH A RETARDATION OF PSYCHOPHYSICAL DEVELOPMENT

Психіатрія, неврологія та медична психологія, 2018
In the structure of the genetic causes of Angelman syndrome, homogeneous disomy of paternal origin on chromosome 15 with translocation is about 1%. It is accompanied by unexpressed phenotypic manifestations, with a low incidence of convulsive paroxysms ...
I. V. Lastivka, V. V. Antsupova, H. O. Suvorova-Grigorovich, O. V. Grishnjaeva, I. R. Tymofiychuk   +4 more
doaj   +1 more source

Coordinated regulation of PIEZO2 by alternative splicing, post‐translational modification, membrane trafficking and protein partners

The Journal of Physiology, EarlyView.
Abstract figure legend Regulatory mechanisms such as alternative splicing, post‐translational modification, membrane trafficking, and protein interactions control channel gating, membrane abundance, and overall activity of PIEZO2. Proper regulation supports PIEZO2‐dependent proprioceptive, somatosensory, nociceptive, pruriceptive and interoceptive ...
Eunice I. Oribamise, Qinglu Li, Mary G. Garry   +2 more
wiley   +1 more source

Синдром Ангельмана. Часть 1 (этиология и патогенез)

Zdorovʹe Rebenka, 2015
В статье приведены современные представления о механизмах генетических изменений при синдроме Ангельмана. Статья содержит данные о частоте встречаемости и риске наследования различных генетических дефектов у больных с синдромом Ангельмана.
A.Ye. Abaturov, L.L. Petrenko, Ye.L. Krivusha   +2 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2794-2803, December 2026.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 8, Page 475-482, December 2026.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

The Effect of Oromotor and Sensory Treatment on Persistent Thumb Sucking and Basic Feeding and Swallowing in a Toddler with Angelman Syndrome: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
A toddler with Angelman syndrome was the subject of the study to find out the effect of oromotor and sensory therapy on fundamental eating and swallowing as well as prolonged thumb sucking.
Neelam Tejani, Seema Saini, Tushar Palekar   +2 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Dravet Syndrome: A Primer for Behavior Analysts

Behavioral Interventions, Volume 41, Issue 4, November 2026.
ABSTRACT Dravet syndrome (DS) is a rare and severe developmental and epileptic encephalopathy that is characterized by prolonged seizures beginning in the first year of life, followed by debilitating and complex features, including sleep disturbances, feeding problems, social‐emotional difficulties, speech deficits, and cognitive and motor impairments.
Isabel B. Hayes, Kasey E. Bedard, A. Delyla Ulm, Veronica Robbins‐Hood   +3 more
wiley   +1 more source

Nucleic Acid Therapeutics in Rare Disease: From Precision Medicine to Programmable Platforms

Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nucleic acid therapeutics (NATs), including antisense oligonucleotides (ASOs), small interfering RNAs (siRNAs), messenger RNA (mRNA) therapeutics and programmable editing technologies, are reshaping the therapeutic landscape for inherited metabolic and genetic disease.
Tomasz Z. Tomkiewicz, Siyamini Sivananthan, Paul Gissen, Haiyan Zhou   +3 more
wiley   +1 more source