Create issue ticket

24 Possible Causes for Hypomyelination, Parietal Focal Spikes

  • West Syndrome

    All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI.[ncbi.nlm.nih.gov] Brain magnetic resonance imaging showed diffusely reduced white matter and brainstem volumes with hypomyelination.[ncbi.nlm.nih.gov] Severe hypomyelination of the cerebral white matter was revealed at the age of 1 year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed.[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] 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] 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] […] 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]

  • 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] ., Parietal focal spikes evoked by contralateral tactile somatotopic stimulation in four non-epileptic subjects, Electroenceph. clin. Neurophysiol., 34: 308 – 312, 1973.[journals.sagepub.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]

  • Generalized Epilepsy with Febrile Seizures Plus

    […] gamma 1, 45kDa 17q21.31 Cystic Fibrosis GJC2 gap junction protein, gamma 2, 47kDa 1q42.13 Spastic Paraplegia 44, Autosomal Recessive, Spastic Paraplegia 44, Leukodystrophy, Hypomyelinating[genecards.weizmann.ac.il] Interictal EEG recordings showed rare, 1- to 2-second-long generalized, irregular spike-and-wave discharges of 2.5 to 5 Hz in eight cases and additional focal parietal discharges[ncbi.nlm.nih.gov]

  • 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] […] tyrosine kinase inhibitor in 211980 Cancer HS Ion AmpliSeq Cancer Hotspot Panel V2 EGR2 Charcot-Marie-Tooth disease, type 1D, Dejerine-Sottas disease, Neuropathy, congenital hypomyelinating[lhsc.on.ca] Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay.[thieme-connect.com]

  • Warburg Micro Syndrome 3

    Corpus callosum appeared hypoplasic, with poor visibility of rostrum and splenium due to an age-related global hypomyelinization.[omicsonline.org] Mental retardation, X-linked syndromic 10300220 HSPD192.70.960.89Leukodystrophy, hypomyelinating, 4612233 HSPD192.70.960.89Spastic paraplegia 13 autosomal dominant,605280[qgenomics.com] […] with deafness 602540 Keratitis-ichthyosis-deafness syndrome 148210 Keratoderma, palmoplantar, with deafness 148350 Vohwinkel syndrome 124500 GJC2 1q42.13 Leukodystrophy, hypomyelinating[institutobernabeu.com]

  • Cataract - Microcornea Syndrome

    Developmental abnormalities include congenital cataracts and microcorneae, primary hypomyelination of the peripheral nervous system, impaired physical growth, delayed early[ojrd.biomedcentral.com] Simultaneously EEG disclosed asynchronous parietal-occipital low voltage spikes or spike-waves moderately increased by sleep.[omicsonline.org] ERCC8 UV-sensitive syndrome, Cockayne syndrome AR 34 64 EYA1 Otofaciocervical syndrome, Branchiootic syndrome, Branchiootorenal syndrome AD 56 218 FAM126A Leukodystrophy, hypomyelinating[blueprintgenetics.com]

  • 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] ID Asynchronous bilateral spike, spike and wave discharges, with central, parietal and frontal predominance (3 m) None OXC 30 mg/kg/d, VPA 32 mg/kg/d, CZP 0.6 mg/d; no seizure[bmcmedgenet.biomedcentral.com] SPTAN1, the gene coding for the non-erythrocyte alpha-II spectrin, has been known as a rare cause of early-onset epileptic encephalopathies with hypomyelination and atrophy[epilepsygenetics.net]

Further symptoms

Similar symptoms