Results 41 to 50 of about 5,960 (193)

Three Indian siblings affected with progressive myoclonic epilepsy due to unverricht–Lundborg disease

Indian Pediatrics Case Reports, 2022
Background: Progressive myoclonus epilepsy (PME) is a group of heterogeneous genetic disorders characterized by action myoclonus, epileptic seizures, and progressive neurologic deterioration with onset of symptoms in adolescence and adulthood. Unverricht–
Kavita Srivastava, Bina Mahendrasinh Thakor, Shuvendu Roy, Surekha Rajadhyaksha, Chaitanya Datar   +4 more
doaj   +1 more source

Lipid‐based Nano‐delivery systems as a promising strategy for the treatment of epilepsy: Current status and challenges

Epilepsia Open, EarlyView.
Abstract Objective Epilepsy is a prevalent chronic neurological disorder characterized by abnormal neuronal electrical activity. The primary treatment modality for individuals with epilepsy (PWE) is antiseizure medication (ASM). The multiple potential factors contributing to treatment resistance in epilepsy may be attributed to the inability of ASMs to
Priya Kannan Varshini, Arunachalam Divya, Kumar Sowndharya, Parthiban Jeevitha, Selvam Manoj, Ashiq Rahman, Athil Ahamed, Ravichandiran Abirahul, Paranthaman Subash, Sulekha Khute   +9 more
wiley   +1 more source

Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review

Epilepsy and Behavior Case Reports, 2014
Purpose: Progressive myoclonic epilepsy type one is a neurodegenerative disorder characterized by action- and stimulus-sensitive myoclonus, tonic–clonic seizures, progressive cerebellar ataxia, preserved cognition, and poor outcome.
Mohammed Saadah, Mahfoud El Beshari, Loai Saadah, Hisham Hamdallah, Zeinab Alloub, Amani Ali Al Zaabi, Abdelmatlob Ben-Mussa, Anwaar Ben-Nour   +7 more
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Progressive Myoclonus Epilepsy

Okayama Igakkai Zasshi (Journal of Okayama Medical Association)
Abstract Unverricht-Lundborg disease (ULD; EPM1) is an inherited neurodegenerative disorder characterized by onset at 6–15 years, stimulus-sensitive, action-activated myoclonus, epilepsy, and progressive neurological deterioration. It is caused by biallelic pathogenic variants in the CSTB gene, encoding a cystatin B.
Saara Tegelberg, Tarja Joensuu, Anna-Elina Lehesjoki   +2 more
openaire   +2 more sources

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, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Genetics of Unverricht-Lundborg Myoclonus Epilepsy

Pediatric Neurology Briefs, 1993
Clinical and molecular genetic data on a family from the United States in which four of five sibs were affected with progressive myoclonus epilepsy of Unverricht-Lundborg type are reported from the University of Helsinki, Finland; National Cancer ...
J Gordon Millichap
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Diligent family history to detect a mitochondrial disorder in disguise: Lessons from a case of myoclonic epilepsy

Annals of Movement Disorders
Mitochondrial disorders often present with ataxia, myoclonus, and epilepsy. Valproic acid may be selected for treating myoclonus if it is the presenting feature.
Suvorit S. Bhowmick, Radhay Parikh, Pratishtha Shrivastav   +2 more
doaj   +1 more source

Unverricht-Lundborg disease in an adult female patient: a clinical case

Неврология, нейропсихиатрия, психосоматика, 2018
We have considered it appropriate to publish this case due to the rarity of progressive myoclonus epilepsy; diagnostic difficulties, particularly in the early stages of the disease (the female patient has been long followed up for diagnosed juvenile ...
V. A. Karlov, I. A. Zhidkova, E. Yu. Mishina, P. N. Vlasov, N. V. Margosyuk, L. P. Tingaeva, E. M. Perepelova, V. A. Perepelov, B. P. Gladov, S. A. Trukhanov   +9 more
doaj   +1 more source