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49 Possible Causes for Hypomyelination, 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]

  • 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]

  • 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]

  • 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]

  • Myoclonic Jerking

    FOLR1 Cerebral folate deficiency FOXRED1 Leigh syndrome, Mitochondrial complex I deficiency GALC Krabbe disease GFAP Alexander disease GJC2 Leukodystrophy, hypomyelinating[genda.com.ar] Ictal EEG : The myoclonic component is associated with a generalized spike or polyspike. The atonic component is associated with the aftergoing high voltage slow wave.[medlink.com] POLR3B Leukodystrophy, hypomyelinating PPT1 Ceroid lipofuscinosis, neuronal PRICKLE1 Epilepsy, progressive myoclonic PRICKLE2 Epilepsy, progessive myoclonic PRODH Hyperprolinemia[genda.com.ar]

  • Familial Infantile Myoclonic Epilepsy

    PubMed PubMedCentral Google Scholar Saitsu H, Tohyama J, Kumada T et al (2010) Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination[link.springer.com] […] background Irregular generalized spike or polyspike and slow wave complexes Photosensitive, decreased during sleep Prognosis: Slow progression, may live to 60s Lafora Disease[emilytam.com] […] or polyspike and slow-wave complexes.  Variable course and outcome.  One half experience encephalopathic effects and suffer from persistent GTCS, myoclonic-atonic status[slideshare.net]

  • Benign Familial Infantile Epilepsy Type 4

    […] hyperintensities X 7% CDKL5 Atypical Rett syndrome, normal early interictal EEG XD SLC25A22 Cerebellar hypoplasia, CC malformation AR STXBP1 AD 6% SPTAN1 Cerebral atrophy, hypomyelination[rch.org.au] […] background Irregular generalized spike or polyspike and slow wave complexes Photosensitive, decreased during sleep Prognosis: Slow progression, may live to 60s Lafora Disease[emilytam.com] PubMed PubMedCentral Google Scholar Saitsu H, Tohyama J, Kumada T et al (2010) Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination[link.springer.com]

  • Progressive Myoclonic Epilepsy Type 3

    GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating[centogene.com] The EEG is characterized by slowing of background activity and the presence of generalized spike-wave and polyspike-wave complexes and bursts of slow waves. 5 High-voltage[clinicalgate.com] EEG showed multiple spike and polyspike-slow wave generalised discharges enhanced by photic stimulation.[jmg.bmj.com]

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

  • Progressive Myoclonic Epilepsy Type 8

    GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating[centogene.com] EEG showed multiple spike and polyspike-slow wave generalised discharges enhanced by photic stimulation.[jmg.bmj.com] EEG: Generalized almost symmetrical high-voltage polyspikes-and-wave along with frequent bilateral independent posterior dominant (T6, O2//T5, O1) focal spikes on a slow &[pubs.sciepub.com]

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