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Epilepsies, Myoclonic

Known as: Disorders, Myoclonic Seizure, Seizures, myoclonic, epilepsy myoclonic 
A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types… 
National Institutes of Health

Related topics

Related topics

48 relations

Narrower (16)

Benign Infantile Myoclonic EpilepsyEPILEPSY, FAMILIAL ADULT MYOCLONIC, 1EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3EPILEPSY, MYOCLONIC, BENIGN ADULT FAMILIAL, TYPE 2
Ceroid Lipofuscinosis, Neuronal, 7EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)EPILEPSY, PETIT MAL, MYOCLONIC ASTATICEPILEPSY, PROGRESSIVE MYOCLONIC 3

Broader (2)

Generalized seizuresMyoclonic Epilepsy, Juvenile

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2006
Review
2006
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy
Voltage-gated sodium channels (NaV) are critical for initiation of action potentials. Heterozygous loss-of-function mutations in… 
Review
2005
Review
2005
Severe myoclonic epilepsy in infancy: Dravet syndrome.
Highly Cited
2002
Highly Cited
2002
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of… 
Highly Cited
2001
Highly Cited
2001
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.
Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by… 
Highly Cited
1999
Highly Cited
1999
Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI.
MRI scans of patients with idiopathic generalized epilepsy (IGE) are normal on visual assessment. Using an interactive anatomical… 
Highly Cited
1998
Highly Cited
1998
Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy
Summary: Purpose: In severe myoclonic epilepsy of infancy (SME), multiple drug‐resistant focal and generalized seizure types… 
Highly Cited
1994
Highly Cited
1994
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Hereditary dentatorubral–pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable… 
Highly Cited
1990
Highly Cited
1990
A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy… 
Review
1985
Review
1985
Epilepsy with impulsive petit mal (Juvenile Myoclonic Epilepsy)
ABSTRACT – Juvenile myoclonic epilepsy (JME) is a special syndrome within the primary generalized epilepsies which is… 
Highly Cited
1984
Highly Cited
1984
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that… 
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