Results 41 to 50 of about 8,171 (145)

A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy

Egyptian Journal of Medical Human Genetics
Background Progressive myoclonic epilepsy is a clinically and genetically heterogeneous group of diseases characterized by myoclonic seizures, drug-resistant epilepsy and neurodevelopmental regression.
Reza Shervin Badv, Fakhreddin Shariatmadari, Shiva Bayat, Sara Memarian, Samaneh Esteghamat Hanzae, Hossein Yousefimanesh   +5 more
doaj   +1 more source

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease. [PDF]

PLoS Genetics, 2011
Lafora disease is the most common teenage-onset neurodegenerative disease, the main teenage-onset form of progressive myoclonus epilepsy (PME), and one of the severest epilepsies.
Julie Turnbull, Anna A DePaoli-Roach, Xiaochu Zhao, Miguel A Cortez, Nela Pencea, Erica Tiberia, Mark Piliguian, Peter J Roach, Peixiang Wang, Cameron A Ackerley, Berge A Minassian   +10 more
doaj   +1 more source

Juvenile Huntington’s disease masquerading as progressive myoclonus epilepsy

Epilepsy & Behavior Reports, 2021
Juvenile Huntington’s disease (JHD) has an onset before 20 years of age, and is characterized by behavioural issues, epilepsy, rigidity, bradykinesia and dystonia. It contributes to 0.5–5% of all Huntington disease (HD) cases.
Bina Thakor, Sujit A. Jagtap, Aniruddha Joshi   +2 more
doaj   +1 more source

GRIA2 Variant Associated With Paradoxical Response to Perampanel Expanding the Spectrum of GRIA2‐Related Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction GRIA2 encodes the GluA2 ionotropic α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazolepropionic acid (AMPA) receptor subunit. Pathogenic GRIA2 variants cause epilepsy, developmental delay, and neurobehavioral disorders. Characterizations of clinical features, including seizure types and their treatments, in patients with GRIA2‐related ...
Sai Srihitha Dommata, Chhitij Tiwari, Zheng Fan, Muge Gucsavas‐Calikoglu, Yael Shiloh‐Malawsky, Kimberly S. Foss, Stephanie N. Peck, Erin L. Heinzen, Chon Lee, Senyene E. Hunter   +9 more
wiley   +1 more source

EPILEPSY IN INBORN ERRORS OF METABOLISM

Эпилепсия и пароксизмальные состояния, 2016
Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
doaj   +1 more source

Exploring the efficacy and safety of perampanel in epilepsia partialis continua: A case series

Epileptic Disorders, EarlyView.
Abstract Background Epilepsia partialis continua (EPC) is a form of focal motor status epilepticus (SE), which is commonly drug‐resistant requiring treatment with multiple antiseizure medications (ASM). There are no established guidelines for pharmacological management.
Setareh Lahsaee, Kristin M. Ikeda, Stephanie Woodroffe, Benjamin P. Whatley   +3 more
wiley   +1 more source

Refining the electroclinical phenotype of 15q11.2 microdeletion: EEG biomarker overlap with Angelman syndrome

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, Joshua Chang, Douglas Nordli III   +2 more
wiley   +1 more source

A Native Haitian Woman with Unverricht-Lundborg Disease

Case Reports in Neurology, 2017
Unverricht-Lundborg disease (ULD) is an autosomal recessive progressive myoclonic epilepsy. The prevalence is highest in specific European countries and North Africa.
Maliheh Mohamadpour, Genevieve Gabriel, Arthur C. Grant   +2 more
doaj   +1 more source

Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions

Biomolecules, 2023
Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) are ultra-rare, autosomal-recessive, acid ceramidase (ACDase) deficiency disorders caused by ASAH1 gene mutations.
Annie Kleynerman, Jitka Rybova, Mary L. Faber, William M. McKillop, Thierry Levade, Jeffrey A. Medin   +5 more
doaj   +1 more source

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

Epileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori, Hiroshi Terashima, Yu kakimoto, Mitsuhiro Kato, Shumpei Uchino   +4 more
wiley   +1 more source