Symptoma

Early Infantile Epileptic Encephalopathy Type 12

MPSI

However, migrating partial seizures of infancy (MPSI) is among the forms of epilepsy that present treatment challenges. [chop.edu]

Five (36%) did not have focal motor seizures at presentation but presented with generalized stiffening or jerking; all showed autonomic features and all subsequently developed focal motor seizures by 6 months of age. [academic.oup.com]

This report presents a case involving a patient with MMPSI, who later developed West syndrome. At the age of 2 months old, he showed multifocal partial seizures, which were refractory to antiepileptic drugs. [unboundmedicine.com]

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

  • Heart Failure

    Herein we describe 3 infants with malignant migrating partial seizures with KCNT1 mutations accompanied by massive systemic to pulmonary collateral arteries with life-threatening hemoptysis and heart failure. [medworm.com]

    This loss will lead to system failures (eg heart failure, or digestive system failures) and these failures lead to death. [givealittle.co.nz]

  • Hyperreflexia

    Showing of 8 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Epileptic encephalopathy 0200134 Focal-onset seizure 0007359 Generalized-onset seizure 0002197 Hyperreflexia Increased reflexes [rarediseases.info.nih.gov]

    By 12 months from presentation, one further patient had developed pyramidal tract signs with spasticity and hyperreflexia and seven were noted to have axial hypotonia. [academic.oup.com]

  • Hyperactivity

    Most MPSI patients have gain-of-function mutations in KCNT1 making these channels hyperactive. Thus, pharmacologic inhibition of KCNT1 activity could be a rational strategy for designing specific anti-MPSI drugs. [cainlabs.texaschildrens.org]

  • Clonus

    MalaCards based summary : Malignant Migrating Partial Seizures of Infancy, also known as malignant migrating partial epilepsy of infancy, is related to epileptic encephalopathy, early infantile, 6 and encephalopathy, and has symptoms including clonus [malacards.org]

  • Nephrolithiasis

    […] sporadic hemiplegic migraine Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation Generalized epilepsy with febrile seizures-plus context Lennox-Gastaut syndrome Progressive myoclonic epilepsy with dystonia Dominant hypophosphatemia with nephrolithiasis [csbg.cnb.csic.es]

  • Hypsarrhythmia

    When he was 9 months old, epilepic spasms were observed with hypsarrhythmia on EEG. He also showed severe developmental delay. MMPSI may be a continuum of infantile epileptic encephalpathy and could evolve to West syndrome. [unboundmedicine.com]

    The study has revealed that migrating partial seizures of infancy is associated with an expanded spectrum of clinical features (including severe gut dysmotility and a movement disorder) and electrographic features including hypsarrhythmia (associated [kclpure.kcl.ac.uk]

    Two of these patients had modified hypsarrhythmia, as described above. [academic.oup.com]

    Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. [selfdecode.com]

  • Hypercapnia

    The sodium-activated potassium channel Slack is modulated by hypercapnia and acidosis. Neuroscience 151, 410–418 (2008). 24. Brown, M.R. et al. Fragile X mental retardation protein controls gating of the sodium-activated potassium channel Slack. [nature.com]

  • Gliosis

    Additional neuropathological findings included bilateral hippocampal gliosis and neuronal loss in two patients who had post-mortem examinations. Within this cohort, we identified two patients with mutations in the newly discovered KCNT1 gene. [kclpure.kcl.ac.uk]

    […] unusually small head size), intellectual disability and a shortened lifespan (many do not survive past infancy or early childhood). 0002376 Epileptic encephalopathy 0200134 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Gliosis [rarediseases.info.nih.gov]

    Microscopy revealed subpial (Chaslin’s) gliosis but no cortical dysplasia. Both hippocampi showed neuronal loss and gliosis in the CA4 region on both sides and possibly extending into CA3, but CA2 and CA1 were well preserved. [academic.oup.com]

  • Liver Biopsy

    biopsy for mitochondrial disorders 18 cases CSF neurotransmitters tested (no.) 6 cases SCN1A gene tested 22 cases (3 have mutations) Microarray 16 cases (2 abnormal) OFC occipitofrontal circumference; SUDEP sudden unexpected death in epilepsy. [academic.oup.com]

[…] of devastating childhood epilepsies with anecdotal success in individual trials of children with Dravet syndrome and Lennox-Gastaut syndrome. 5,6 There are no reports of the use of cannabinoids in the treatment of MMPSI. [deepdyve.com]

By the end of her seven-month treatment, the patient had been completely seizure-free for more than four months, and almost entirely seizure-free for more than 90 percent of her treatment time. [chop.edu]

Effective treatment calls for multi-disciplinary support from neurology, neurosurgery, emergency care, critical care medicine, and other fields. [books.google.de]

CONCLUSION: This report supports a role for cannabidiol in the treatment of malignant migrating partial seizures in infancy. Read this article (multiple options) Comments Related Papers [readbyqxmd.com]

In MMPSI, specifically, partial seizures generally begin shortly after birth and are often not responsive to treatment. [malacards.org]

The syndrome of malignant migrating partial seizures of infancy (MMPSI) is characterized by early onset of multiple seizure types and overall poor prognosis. [ncbi.nlm.nih.gov]

AB - Migrating partial seizures of infancy, also known as epilepsy of infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy with poor prognosis, presenting with focal seizures in the first year of life. [kclpure.kcl.ac.uk]

Prognosis for seizure control, neurological or psychomotor skill development or even survival beyond the first few years is poor in these patients. Most MPSI patients do not respond to the available antiepileptic drugs. [cainlabs.texaschildrens.org]

Prognosis is poor with ongoing intractable seizures, severe neurological disability and reduced life expectancy, although a milder evolution has been reported in a few children. [epilepsydiagnosis.org]

Epileptic Disorders, Mar 2011 The syndrome of malignant migrating partial seizures of infancy (MMPEI) is characterized by early onset of multiple seizures types, highly pharmaco-resistant seizures, and overall poor prognosis. [paperity.org]

The current study aims to determine the genetic etiology of a familial form of EOEE fulfilling the diagnosis criteria for malignant migrating partial seizures of infancy (MMPSI). [ncbi.nlm.nih.gov]

Etiology is still unknown, though it appears reasonable to suspect a genetic etiology for MMPSI; a channelopathy may be responsible for the age-dependent cortical neuronal hyperexcitability. [books.google.de]

Dimah Saade, Charuta Joshi Pediatric Neurology 2015, 52 (5): 544-7 25882081 BACKGROUND: Malignant migrating partial seizures in infancy is a devastating pharmacoresistent epileptic encephalopathy of unknown etiology characterized by onset in the first [readbyqxmd.com]

Malignant Migrating Partial Seizures in Infancy: A Case Report Saade, Dimah; Joshi, Charuta 2015-05-01 00:00:00 Introduction Malignant migrating partial seizures in infancy (MMPSI) is a devastating pharmacoresistent epileptic encephalopathy of unknown etiology [deepdyve.com]

Malignant migrating partial epilepsy of infancy - Migrating partial epilepsy of infancy - Migrating partial seizures of infancy Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients. Pediatr Neurol. 1998 Jan. 18(1):46-50. [Medline]. Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. [emedicine.medscape.com]

Although our series has no epidemiological value, figures are more likely to overestimate than to underestimate the incidence of unclassifiable cases in the general population, because the patients were drawn from a tertiary reference centre. [adc.bmj.com]

Banerjee PN1, Filippi D, Allen Hauser W: The descriptive epidemiology of epilepsy - a review. Epilepsy Res 85:31-45 (2009). [karger.com]

We thus propose that mutations in KCNT1 provide the first pathophysiological basis of a channelopathy linking dysfunction of firing, thus epilepsy, to impaired function of a protein involved in cognitive development, FMRP, causing arrest of psychomotor [ashg.org]

Pathophysiology The epileptic encephalopathies are a group of age-specific epilepsy syndromes of diverse etiologies that share the potential for causing significant cognitive impairment. [emedicine.medscape.com]

While these gene discoveries initially had no direct link to the more severe epileptic encephalopathies, they laid the general pathophysiological concept, such as the channelopathy concept of the human epilepsies [Steinlein, 2004], which eventually provided [karger.com]

In the context of prevention and treatment processes, it is not only necessary to terminate epileptic seizures, but to also address the disruption of the patient’s internal environment and provide critical life support. [books.google.de]

However, due to its peculiar ability in Nrf2 activation, SFN is recognized as an activator of Nrf2 and recommended as a supplementation for prevention and/or treatment of disorders like neoplasm and heart failure. [medworm.com]

We should point out that discovering a brain lesion or inborn error of metabolism does not prevent identification of the epilepsy syndrome based on seizure type and interictal EEG for therapeutic purposes. [adc.bmj.com]