Results 91 to 100 of about 8,267 (258)

Managing Dystonia in Partington Syndrome

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon   +13 more
wiley   +1 more source

Lesional Intractable Epileptic Spasms in Children: Electroclinical Localization and Postoperative Outcomes [PDF]

open access: gold, 2022
Shuang Wang   +12 more
openalex   +1 more source

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

open access: yesMovement Disorders, EarlyView.
Abstract Background Biallelic loss‐of‐function variants in PI4K2A have been associated with a neurodevelopmental disorder characterized by seizures and movement disorders, including orofacial dyskinesia. However, only 4 cases have been reported. Orolingual dyskinesia—defined as involuntary movements of the mouth and tongue—is observed in various ...
Reza Maroofian   +9 more
wiley   +1 more source

The significance of focal pattern in hypsarrhythmia

open access: yesBrain Disorders
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Anna Wiedemann   +2 more
doaj   +1 more source

Transcranial Direct Current Stimulation for Patients With Pharmacoresistant Epileptic Spasms: A Pilot Study

open access: yesFrontiers in Neurology, 2019
Background: Epileptic spasms (ES) is a severe seizure type and lack of adequate methods for controlling of clinical attacks. Previous studies have indicated that cathodal transcranial direct current stimulation (tDCS) reduces seizure frequency for ...
Dongju Yang   +20 more
doaj   +1 more source

Deep Brain Stimulation in Children and Adolescents with ε‐Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life

open access: yesMovement Disorders, EarlyView.
Abstract Background Deep brain stimulation of the globus pallidus internus (DBS‐GPi) has shown efficacy in adult patients with SGCE‐related myoclonus dystonia. However, evidence regarding its impact in pediatric populations is limited. Objectives The aim was to evaluate motor and non‐motor outcomes following DBS‐GPi intervention in children and ...
Ainara Salazar‐Villacorta   +23 more
wiley   +1 more source

Aicardi syndrome – case report and literature review

open access: yesAnnales Academiae Medicae Silesiensis
Aicardi syndrome (AS) is a rare congenital disorder with neurodevelopmental symptoms that in the significant majority of cases occurs in females. It is typically characterized by a classic triad of symptoms: epileptic spasms, agenesis of the corpus ...
Patrycja Ochman-Pasierbek   +4 more
doaj   +1 more source

Engagement of cortico-cortical and cortico-subcortical networks in a patient with epileptic spasms: An integrated neurophysiological study [PDF]

open access: green, 2020
Takeshi Inoue   +16 more
openalex   +1 more source

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