Progressive Myoclonic Epilepsy

Progressive myoclonic epilepsy (PME) is a heterogeneous group of epilepsies characterized by myoclonus seizures and progressive neurological symptoms. Discover the latest research on PME here.

December 23, 2020

Genome-wide analysis of LBD(lateral organ boundaries domain) gene family in Cannabis sativa of traditional Chinese medicine hemp seed

Zhongguo Zhong yao za zhi = Zhongguo zhongyao zazhi = China journal of Chinese materia medica
Wang ZhenM A Wei
November 13, 2020
Case Report
Open Access

Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E

Tremor and Other Hyperkinetic Movements
Cliona BuckleyTimothy Lynch
November 23, 2020
Open Access

Multivariate white matter alterations are associated with epilepsy duration

The European Journal of Neuroscience
Thomas W OwenPeter N Taylor
December 17, 2020
Open Access

Ketogenic diet reduces Lafora bodies in murine Lafora disease

Neurology. Genetics
Lori IsraelianBerge A Minassian
December 30, 2020

Lafora body disease: a case of progressive myoclonic epilepsy

BMJ Case Reports
Ranjot KaurSudarshan Kumar Sharma
November 24, 2020

Clinical features of mtDNA-related syndromes in adulthood.

Archives of Biochemistry and Biophysics
Vincenzo MontanoMichelangelo Mancuso
December 2, 2020

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy

Human Mutation
Teresa CampbellTaosheng Huang
December 29, 2020
Open Access

Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia

Brain Communications
James D TriplettChristopher J Klein
January 16, 2021

Modulators of Neuroinflammation Have a Beneficial Effect in a Lafora Disease Mouse Model

Molecular Neurobiology
Belén MolláPascual Sanz
December 22, 2020
Open Access

Genomic and Phenotypic Divergence in Wild Barley Driven by Microgeographic Adaptation

Advanced Science
Jianxin BianSong Weining
December 22, 2020
Case Report
Open Access

Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy

Frontiers in Genetics
Mostafa HotaitAhmad Beydoun
January 12, 2021

Molecular pathophysiology of human MICU1-deficiency

Neuropathology and Applied Neurobiology
Nicolai KohlschmidtAndreas Roos
December 6, 2020
Open Access

An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice

The Journal of Biological Chemistry
Silvia NitschkeBerge A Minassian
December 2, 2020
Open Access

A C. elegans genome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function

BioRxiv : the Preprint Server for Biology
T. ChayaJessica E. Tanis
December 19, 2020

Vomiting and retching as presenting signs of focal epilepsy in children

Epileptic Disorders : International Epilepsy Journal with Videotape
Marion DepermentierMaria Roberta Cilio
December 12, 2020
Open Access

Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients

Molecular Genetics and Metabolism Reports
Ioannis ZaganasPanayiotis Mitsias
November 20, 2020

Single-Shot Liposomal Bupivacaine Reduces Postoperative Narcotic Use Following Outpatient Rotator Cuff Repair: A Prospective, Double-Blinded, Randomized Controlled Trial

The Journal of Bone and Joint Surgery. American Volume
Aaron M BaesslerBrian L Badman
December 4, 2020
Open Access

Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing CLN2

Science Translational Medicine
Dolan SondhiRonald G Crystal

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Dravet Syndrome

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Early Myoclonic Encephalopathy

Early myoclonic encephalopathy is an epileptic syndrome typically diagnosed by three months of age. It is characterized by frequent seizures and severe early encephalopathy and has a severely reduced life expectancy. Causes can include metabolic abnormalities or genetic mutations. Find the latest research on early myoclonic encephalopathy here.


Epilepsy is a chronic neurological disorder characterized by unprovoked and recurrent seizures. Discover the latest research on factors and mechanisms that underlie epilepsy here.

Frontal Lobe Epilepsy

Frontal lobe epilepsy is characterized by brief, recurring seizures, often during sleep. Depending on the areas of the brain that are affected, these seizures may be asymptomatic or present with motor or verbal symptoms. Find the latest research on frontal lobe epilepsy here.

Juvenile Myoclonic Epilepsy

Juvenile myoclonic epilepsy, previously known as idiopathic generalized epilepsy, is a form of generalized epilepsy whose cause is presumed to be genetic in origin. The first seizure typically occurs between the ages of 5-12, and symptoms may improve after the fourth decade of life. Seizure may be of different subtypes, including absence, myoclonic, and tonic-clonic. Find the latest research on juvenile myoclinic epilepsy here.

Lafora Disease

Lafora disease is an inherited neurodegenerative disorder characterized by the presence of abnormal glycogen inclusions, called Lafora bodies, in neurons and other tissues. Here is the latest research on this fatal autosomal recessive disorder.

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