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Lafora Disease

Known as: EPILEPSY, PROGRESSIVE MYOCLONIC, 2A, Disorder, Lafora Body, Epilepsy Progressive Myoclonic 2 
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure… 
National Institutes of Health

Related topics

Related topics

23 relations
Absence EpilepsyApraxiasAutosomal recessive inheritanceDementia

Broader (2)

Epilepsies, MyoclonicFamilial Progressive Myoclonic Epilepsy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Molecular dynamics, dynamic site mapping, and highthroughput virtual screening on leptin and the Ob receptor as anti-obesity target
AbstractBody weight control is a mechanism finely regulated by several hormonal, metabolic, and nervous pathways. The leptin… 
Highly Cited
2005
Highly Cited
2005
Idiopathic Generalized Epilepsies Recognized by the International League Against Epilepsy
Summary:  There are eight syndromes currently recognized by the International League Against Epilepsy (ILAE) that would fit the… 
Highly Cited
2001
Highly Cited
2001
Affective-prosodic deficits in schizophrenia: profiles of patients with brain damage and comparison with relation to schizophrenic symptoms
OBJECTIVE Although affective prosody seems to be a dominant and lateralised communication function of the right hemisphere, focal… 
Review
2000
Review
2000
The effects of motion on trunk biomechanics.
Highly Cited
1999
Highly Cited
1999
L-764406 Is a Partial Agonist of Human Peroxisome Proliferator-activated Receptor γ
Insulin-sensitizing thiazolidinedione (TZD) compounds are high affinity ligands for a member of the nuclear receptor family… 
Highly Cited
1998
Highly Cited
1998
Cloning and Characterization of Mouse RIP140, a Corepressor for Nuclear Orphan Receptor TR2
ABSTRACT The mouse homologue of the human receptor-interacting protein 140 (RIP140) was isolated from a mouse embryonic cDNA… 
Highly Cited
1995
Highly Cited
1995
A 10-amino-acid sequence in the N-terminal A/B domain of thyroid hormone receptor alpha is essential for transcriptional activation and interaction with the general transcription factor TFIIB
The effects of the thyroid hormone (3,5,3'-triiodo-L-thyronine [T3]) on gene transcription are mediated by nuclear T3 receptors… 
Highly Cited
1994
Highly Cited
1994
The role of tinman, a mesodermal cell fate gene, in axon pathfinding during the development of the transverse nerve in Drosophila.
During the development of peripheral nerves, pioneer axons often navigate over mesodermal tissues. In this paper, we examine the… 
Highly Cited
1982
Highly Cited
1982
Constructional strategies on complex figure drawings after unilateral brain damage.
The strategy used in drawing a complex geometric design was compared in right-brain-damaged (RBD) and left-brain-damaged (LBD… 
Highly Cited
1974
Highly Cited
1974
Lafora's disease
A 17-yearald patient had myoclonic epilepsy caused by Lafora's disease. Biopsy showed polysaccharide accumulations within… 
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