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13 Possible Causes for Hypomyelination, Multifocal Pattern with Spikes and Sharp-Waves , Polyspike-and-Slow-Waves

  • West Syndrome

    All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI.[ncbi.nlm.nih.gov] Interictal The background EEG is often highly disorganized with high voltage irregular slow waves intermixed with multifocal spikes and polyspikes, this is termed 'hypsarrhythmia[epilepsydiagnosis.org] Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[ncbi.nlm.nih.gov]

  • Generalized Clonic or Tonic-Clonic Seizures

    Neonatal onset Apraxia Postural instability Cerebral hypomyelination Olivopontocerebellar atrophy Pruritus Muscle fibrillation Headache Amaurosis fugax Involuntary movements[mendelian.co] . • Ictal EEG consists of “Fast activity” (10 Hz or more) and slow waves, with an occasional spike-and-wave pattern. • The EEG interictal expression is of “spike-and-wave[medlink.com] Hypomimic face Action tremor Agraphesthesia Intellectual disability, severe Bradykinesia Arrhythmia Cerebral cortical atrophy Absent speech Dyskinesia Hypsarrhythmia CNS hypomyelination[mendelian.co]

  • Epilepsy

    […] in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination[doi.org] Generalized polyspike-slow wave in EEG was common to see in myoclonic seizure and can help to make the classification.[ncbi.nlm.nih.gov] Gruss and Rafal Ploski, Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs, European[doi.org]

  • Juvenile Myoclonic Epilepsy

    Gruss and Rafal Ploski, Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs, European[doi.org] slow wave discharges.[en.wikipedia.org] The EEG typically shows a characteristic pattern with generalized 4–6 Hz polyspike and slow wave discharges.[medindia.net]

  • Familial Progressive Myoclonic Epilepsy

    FOLR1 Cerebral folate deficiency FOXRED1 Leigh syndrome, Mitochondrial complex I deficiency GALC Krabbe disease GFAP Alexander disease GJC2 Leukodystrophy, hypomyelinating[genda.com.ar] EEG showed multiple spike and polyspike-slow wave generalised discharges enhanced by photic stimulation.[jmg.bmj.com] .  EEG - diffuse slow background activity and generalised high-voltage spike and wave, and polyspike and wave paroxysms, ranging from 2–3 Hz to 4–6 Hz, which reach a maximum[slideshare.net]

  • Early Infantile Epileptic Encephalopathy Type 2

    A disorder (OMIM:612164) characterised by neonatal or infantile onset of seizures, suppression-burst pattern on EEG, profound mental retardation, and MRI evidence of hypomyelination[medical-dictionary.thefreedictionary.com] […] and sharp wave discharges.[intechopen.com] […] paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according to seizure type. 16.[slideshare.net]

  • Early Infantile Epileptic Encephalopathy Type 26

    Brainstem and cerebellar atrophy and cerebral hypomyelination, as observed by magnetic resonance imaging, are specific hallmarks of this condition.[nature.com] Multifocal singular sharp waves ( A ) are markedly activated during sleep into a pattern of near-continuous spike-and-wave activity ( B ).[thieme-connect.com] […] paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according to seizure type. 16.[slideshare.net]

  • Early Infantile Epileptic Encephalopathy Type 13

    The full phenotypic spectrum is not yet understood and might include spasticity, intellectual disability, hypomyelination, and pontocerebellar atrophy. EIEE6 – SCN1A.[euroepinomics.wordpress.com] […] and sharp wave discharges.[intechopen.com] […] paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according to seizure type. 16.[slideshare.net]

  • Early Infantile Epileptic Encephalopathy with Suppression-Burst

    Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.[cambridge.org] […] and sharp wave discharges.[intechopen.com] […] paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according to seizure type. 16.[slideshare.net]

  • Early Infantile Epileptic Encephalopathy Type 24

    The full phenotypic spectrum is not yet understood and might include spasticity, intellectual disability, hypomyelination, and pontocerebellar atrophy. EIEE6 – SCN1A.[euroepinomics.wordpress.com] Multifocal singular sharp waves ( A ) are markedly activated during sleep into a pattern of near-continuous spike-and-wave activity ( B ).[thieme-connect.com] […] paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according to seizure type. 16.[slideshare.net]

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