Results 51 to 60 of about 1,536,733 (206)
Psychiatry and Clinical Psychopharmacology, 2021 The purpose of this article is to review the diagnostic procedures and genetic analysis in making differential diagnosis of a case having similar symptoms of Rett and Angelman syndromes.
Tümer Türkbay +2 more
doaj
Annals of the Child Neurology Society, EarlyView.ABSTRACT Introduction Duchenne muscular dystrophy (DMD) is the most common pediatric muscular dystrophy. Typically, there is a ~ 2‐year delay between symptom onset and diagnosis. Limited data on outcomes in early‐diagnosed individuals have limited the understanding of the clinical impact of early diagnosis.
Vaishnavi Brahmamdam +8 more
wiley +1 more source
Craniofacial disorders in the course of Angelman syndrome - a review of the literature
Journal of Education, Health and Sport, 2020 Angelman syndrome is a neurogenetic disorder with an estimated prevalence of 1 in 10.000 to 1 in 40.000 cases. Clinical presentation is based on characteristic neurobehavioral and emotional disorders, a function of the nervous and pulmonary system as ...
Katarzyna Brukiewicz, Oskar Komisarek
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Epileptic Disorders, EarlyView.Abstract The 15q11.2 microdeletion is a chromosomal condition associated with a broad epileptic phenotype. It is differentiated from Angelman syndrome, which is typically a larger maternal deletion in an overlapping area. We describe a patient with a 15q11.2 microdeletion that has clinical and EEG biomarker features similar to those seen in Angelman ...
Hok Leong Chin +2 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
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
Angelman Syndrome and Epilepsy
, 1993 Characteristic epileptic seizures and EEG abnormalities are reported in three siblings with Angelman syndrome from the Kansai University Otokoyoma Hospital, Kyoto; and the Nagasaki University School of Medicine ...
J Gordon Millichap, Millichap, J. Gordon
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Angelman syndrome: The blurred lines of interpretation in cognitive defects
Journal of Pediatric Neurosciences, 2015 Angelman syndrome is a neuro-developmental disorder with a genetic basis in maternal genomic imprinting that presents with cognitive and behavioral impairment.
Sushant Mane, Rudrarpan Chatterjee
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