Create issue ticket

89 Possible Causes for Hypomyelination, Occipital 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]

  • 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] Rask and Fernando Torres, Clinical Manifestations in Children with Occipital Spike‐Wave Paroxysms, Epilepsia, 33, 4, (667-674), (2005). R. J.[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]

  • 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]

  • 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]

  • Distal Hereditary Motor Neuropathy Type 1

    DI-CMTB AD 19p12–p13.2 DYN2 DI-CMTC AD 1p34–p35 YARS RI-CMT AR 1p36.31 PLEKHG5 CMT3 (Dejerine–Sottas disease, congenital hypomyelinating neuropathy) AD 17p11.2 PMP22 AD 1q21[mhmedical.com] […] epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild gastroenteritis Benign nocturnal alternating hemiplegia of childhood Benign[se-atlas.de] […] neuropathy (with hypotonia at birth) and congenital hypomyelination neuropathy, life expectancy may be only a few months Essential features Atrophic myofibers with myofiber[pathologyoutlines.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Hypomyelination with congenital cataracts.[ajnr.org] […] epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild gastroenteritis Benign nocturnal alternating hemiplegia of childhood Benign[se-atlas.de] […] der Knaap Syndrome (Vacuolating Leukodystrophy with Subcortical Cysts or MLC) Vanishing White Matter Disease (VWM) or Childhood ataxia with diffuse central nervous system hypomyelination[themorganproject.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] Differential diagnosis Occipital spikes, like other focal spikes, can exist without clinical epilepsy. They can also be noted in children with visual impairment.[emedicine.medscape.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]

  • 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] Transient impairment of visual perception induced by single interictal occipital spikes. J Clin Exp Neuropsychol. 1989 Oct. 11(5):675-91. [Medline].[emedicine.medscape.com] 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 3

    GJC2 Leukodystrophy hypomyelinating type 3 AIMP1 Leukodystrophy hypomyelinating type 4 HSPD1 Leukodystrophy hypomyelinating type 5 FAM126A Leukodystrophy hypomyelinating[centogene.com] Focal spikes or sharp waves are also seen, most commonly over the occipital regions. Brain MRI often shows brain atrophy and basal ganglia calcification.[clinicalgate.com] […] 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]

  • 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] Sporadic focal spikes, particularly in the occipital region, may be seen but are usually not prominent ( Fig. 2 ). Photosensitivity is typically marked.[neupsykey.com] Retardation, GABRA1-Related Juvenile Myoclonic Epilepsy, GABRG2-Related Dravet Syndrome, GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus, Global Cerebral Hypomyelination[genetests.org]

Further symptoms

Similar symptoms