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Angelman Syndrome

Angelman Syndrome diagram by Meng et al, PLOS Genetics
Meng et al, PLOS Genetics

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Top 20 most recent papers
Journal of the Neurological Sciences

Efficacy upon 12-weeks after achievement of maximal dose and tolerability of lacosamide as an adjunctive therapy in epilepsy: Real world clinical experience

Journal of the Neurological SciencesDecember 5, 2019
Richard Shek-Kwan ChangYujie Olivia Wang
2
Science

Potassium channel dysfunction in human neuronal models of Angelman syndrome

ScienceDecember 21, 2019
Alfred Xuyang SunHyunsoo Shawn Je
64
4
2
2
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society

Response to cannabidiol in epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations: An open-label, prospective, interventional study

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology SocietyJanuary 14, 2020
Kelsey PoissonMaria Roberta Cilio
3
International Journal of Molecular Sciences

Ceftriaxone Treatment Affects EAAT2 Expression and Glutamatergic Neurotransmission and Exerts a Weak Anticonvulsant Effect in Young Rats

International Journal of Molecular SciencesNovember 27, 2019
Aleksey V ZaitsevVladimir Zavyalov
Pathophysiology : the Official Journal of the International Society for Pathophysiology

Wi-Fi decreases melatonin protective effect and increases hippocampal neuronal damage in pentylenetetrazole induced model seizures in rats

Pathophysiology : the Official Journal of the International Society for PathophysiologyDecember 2, 2019
Recep AkkayaAhmet Şevki Taşkıran
2
1
Neuropharmacology

The Current Approach of the Epilepsy Therapy Screening Program Contract Site for Identifying Improved Therapies for the Treatment of Pharmacoresistant Seizures in Epilepsy

NeuropharmacologyDecember 4, 2019
Karen S WilcoxCameron S Metcalf
Epilepsia

Hyperlipidemia in patients newly treated with anticonvulsants: A population study

EpilepsiaJanuary 9, 2020
Scott MintzerScott Keith
11
1
Research in Developmental Disabilities

Interventions to improve sleep for individuals with Angelman syndrome: A systematic review

Research in Developmental DisabilitiesDecember 24, 2019
Mary EganHelena Kay Lydon
Molecular Autism

The role of ubiquitin ligase E3A in polarized contact guidance and rescue strategies in UBE3A-deficient hippocampal neurons

Molecular AutismDecember 5, 2019
Ilaria TonazziniMarco Cecchini
1
Epilepsia

Lactate reduces epileptiform activity through HCA1 and GIRK channel activation in rat subicular neurons in an in vitro model

EpilepsiaNovember 23, 2019
Pooja Jorwal, Sujit Kumar Sikdar
7
1
Epilepsy Research

Micronized resveratrol shows promising effects in a seizure model in zebrafish and signalizes an important advance in epilepsy treatment

Epilepsy ResearchDecember 2, 2019
Laura DecuiAnna Maria Siebel
2
Frontiers in Neurology

Efficacy and Tolerance of Synthetic Cannabidiol for Treatment of Drug Resistant Epilepsy

Frontiers in NeurologyJanuary 11, 2020
Kerstin A KlotzJulia Jacobs
9
1
Neuropharmacology

Seizure prediction and intervention

NeuropharmacologyDecember 17, 2019
Christian Meisel, Tobias Loddenkemper
2
Trials

Evaluation of the safety and tolerability of a nutritional Formulation in patients with ANgelman Syndrome (FANS): study protocol for a randomized controlled trial

TrialsJanuary 11, 2020
Donna L HerberJessica Duis
Journal of Neurology

Predicting the antiepileptic drug response by brain connectivity in newly diagnosed focal epilepsy

Journal of NeurologyJanuary 12, 2020
Kang Min ParkSung Eun Kim
Epilepsy & Behavior : E&B

Trazodone increases seizures in a genetic WAG/Rij rat model of absence epilepsy while decreasing them in penicillin-evoked focal seizure model

Epilepsy & Behavior : E&BDecember 23, 2019
Hatice Aygun
Research in Developmental Disabilities

Sleep disorders in children with Angelman and Smith-Magenis syndromes: The assessment of potential causes of disrupted settling and night time waking

Research in Developmental DisabilitiesDecember 16, 2019
Georgie AgarCaroline Richards
8
Neuropharmacology

Activation of small conductance calcium-activated potassium channels suppresses seizure susceptibility in the genetically epilepsy-prone rats

NeuropharmacologyNovember 30, 2019
Padmini KhandaiProsper N'Gouemo
ENeurologicalSci

Reversible splenial lesion in a patient with new-onset refractory status epilepticus (NORSE)

ENeurologicalSciJanuary 8, 2020
Akane Unno MizutaniHidekazu Tomimoto
Brain Sciences

Cannabis Influences the Putative Cytokines-Related Pathway of Epilepsy among Egyptian Epileptic Patients

Brain SciencesNovember 24, 2019
Yasmeen M TaalabMohammed Abbas
28

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