Managing Dystonia in Partington Syndrome
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]
Shuang Wang +12 more
openalex +1 more source
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
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
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
The Predictive Value of the Type of Seizure Onset in Infants with Epileptic Spasms and Partial Seizures within a Single Ictal Event [PDF]
András Fogarasi +2 more
openalex +1 more source
Interrater and Intrarater Agreement of Epileptic Encephalopathy Among Electroencephalographers for Children with Infantile Spasms Using the Burden of Amplitudes and Epileptiform Discharges (BASED) EEG Grading Scale: Study Design and Statistical Considerations [PDF]
Xinting Liu +8 more
openalex +1 more source
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
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]
Takeshi Inoue +16 more
openalex +1 more source

