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Migrating Partial Seizures in Infancy

Known as: MMPSI, MPSI, Malignant Migrating Partial Seizures in Infancy 
A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple… 
National Institutes of Health

Papers overview

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Highly Cited
2018
Highly Cited
2018
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion…
BackgroundMucopolysaccharidosis (MPS) Type I (MPSI) is caused by mutations in the gene encoding the lysosomal enzyme, α-L… 
Review
2015
Review
2015
Advancing epilepsy genetics in the genomic era
Epilepsy is a group of disorders characterized by recurrent seizures, and is one of the most common neurological conditions. The… 
Highly Cited
2014
Highly Cited
2014
Early onset epileptic encephalopathy caused by de novo SCN8A mutations
De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven patients with de… 
Highly Cited
2013
Highly Cited
2013
SLC25A22 is a novel gene for migrating partial seizures in infancy
To identify a genetic cause for migrating partial seizures in infancy (MPSI). 
Highly Cited
2013
Highly Cited
2013
Novel Compound Heterozygous Mutations in TBC1D24 Cause Familial Malignant Migrating Partial Seizures of Infancy
Early‐onset epileptic encephalopathies (EOEEs) are a group of rare devastating epileptic syndromes of infancy characterized by… 
Highly Cited
2012
Highly Cited
2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We… 
Highly Cited
2012
Highly Cited
2012
Neuropathology in Mouse Models of Mucopolysaccharidosis Type I, IIIA and IIIB
Mucopolysaccharide diseases (MPS) are caused by deficiency of glycosaminoglycan (GAG) degrading enzymes, leading to GAG… 
Highly Cited
2011
Highly Cited
2011
De novo SCN1A mutations in migrating partial seizures of infancy
Objective: To determine the genetic etiology of the severe early infantile onset syndrome of malignant migrating partial seizures… 
2011
2011
The efficacy of bromides, stiripentol and levetiracetam in two patients with malignant migrating partial seizures in infancy
The syndrome of malignant migrating partial seizures in infancy is a devastating, age-specific, epileptic encephalopathy, which… 
Highly Cited
2004
Highly Cited
2004
Prevention of neuropathology in the mouse model of hurler syndrome
A defect of the lysosomal enzyme α‐L‐iduronidase (IDUA) interrupts heparan and dermatan sulfate degradation and causes… 
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