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20 Possible Causes for Frontal Focal Spikes, 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] The diagnosis of frontal lobe epilepsy (generalized tonic-clonic seizures secondary to focal impaired awareness seizures and myoclonus) was made.[ncbi.nlm.nih.gov] Generalized polyspike-slow wave in EEG was common to see in myoclonic seizure and can help to make the classification.[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]

  • 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]

  • 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] Epileptic activity comprises 3- to 5-Hz spike-wave or multiple spike-wave activity with the maximum field being anterior.[neupsykey.com] […] fast spikes, polyspikes and polyspike‐and‐wave discharges Slow background activity, spike‐ and polyspike‐and‐wave discharges and multifocal spikes activated by non‐REM sleep[onlinelibrary.wiley.com]

  • Spastic Ataxia with Congenital Miosis

    Hypomyelination with Congenital Cataract Hypomyelination with congenital cataract (HCC, OMIM 610532) is a recently described disorder with CNS hypomyelination, reported in[clinicalgate.com] […] temporal lobe) Have a focal orign EEG : interictal: spike discharges in 1 or both temporal lobes.[flashcardmachine.com] EEG showed background activity lacking alpha waves but containing abundant slow waves and right hemisphere dominant diffuse sharp waves or polyspikes; ictal EEG showed diffuse[findzebra.com]

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    […] neuropathy Congenital hypomyelinating neuropathy Charcot-Marie-Tooth disease Dejerine-Sottas disease Hereditary sensory and autonomic neuropathy Neuromuscular Junction Disorders[pedsinreview.aappublications.org] Spike-and-wave is of low amplitude. Interictal EEG may be normal or show focal bi-fronto-temporal spikes. Seizures are usually frequent and intractable to medications.[epilepsydiagnosis.org] PNPLA2 Neutral lipid storage disease with myopathy GeneReviews OMIM PNPO Pyridoxamine 5'-phosphate oxidase deficiency Alpers-Huttenlocher syndrome GHR GeneReviews OMIM POLR1C Hypomyelinating[genepeeks.com]

  • New-Onset Refractory Status Epilepticus

    Magnetic resonance imaging (MRI) documented thinning of the corpus callosum, hypomyelination of the semi-oval centers, extensive and multifocal subcortical malacic areas and[ccrejournal.eu] , sharp waves, spike-and-wave or sharp-and-slow-wave discharges at 2.5 Hz, discharges • Rhythmic waves at 0.5 Hz (theta–delta range) with: - Incrementing onset (increase in[nature.com] Interictal awake electroencephalogram (EEG) showed: activity of continuous di used theta waves with sporadic Frontal focal spikes.[ccrejournal.eu]

  • Ring Chromosome 11 Syndrome

    Hypomyelination has been reported in patients with chromosome 18q- and postulated to be secondary to deletion of the gene coding for myelin basic protein found at 18q23.[journals.sagepub.com] […] interictal epileptiform discharges, often in the frontal brain regions.[ng.neurology.org] EEG patterns of two types are recognized - diffuse, atypical slow sharp/spike-and-wave complexes in long bursts activated by slow wave sleep or high amplitude fast spike/polyspike-and-wave[epilepsydiagnosis.org]

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