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14 Possible Causes for Multifocal Seizures, Mutation in the WWOX Gene

  • Early Infantile Epileptic Encephalopathy Type 2

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498).[jcnonweb.com] seizures Cupped ear Everted lower lip vermilion Frontal bossing Aggressive behavior Hypermetropia Downturned corners of mouth Highly arched eyebrow Facial asymmetry Protruding[mendelian.co]

  • Lethal Neonatal Spasticity - Epileptic Encephalopathy

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] […] development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia.[genecards.org] The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation . Brain 137 , 411–419 (2014). 2.[nature.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Abstract OBJECTIVE: Lethal neonatal rigidity and multifocal seizure syndrome is a newly recognized genetic disorder associated with early onset of rigidity, multifocal epilepsy[childnervoussystem.blogspot.com] Leu206*) associated with lethal neonatal rigidity and multifocal seizure syndrome.[jcnonweb.com]

  • Familial Infantile Myoclonic Epilepsy

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[genomemedicine.biomedcentral.com] […] syndrome 1 (MCAHS1) neonatal-lethal rigidity and multifocal seizure syndrome ( RFMSL ) neuronal ceroid lipofuscinosis nocturnal frontal lobe epilepsy NGLY1-congenital disorder[invitae.com] EEG showing focal or multifocal sharp waves or “theta pointu alternant” pattern 8.  Onset of erratic myoclonus before 3 months (usually first 30 days).  Massive myoclonus[slideshare.net]

  • Boucher-Neuhäuser Syndrome

    Mallaret, M., et al., The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[cordis.europa.eu] seizure syndrome Ritscher-Schinzel syndrome Roussy-Levy syndrome S Sandhoff disease Schimke immunoosseous dysplasia Sensory neuropathy SeSAME syndrome Short-rib thoracic[genomediagnosticsnijmegen.nl] Synofzik, M., et al., PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.[cordis.europa.eu]

  • Autosomal Recessive Spastic Paraplegia Type 14

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Seizure Syndrome, Lethal Neonatal Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant Spastic[familydiagnosis.com] Seizure Syndrome, Lethal Neonatal 1 Ring Dermoid Of Cornea 2 Rippling Muscle Disease 2 Ritscher-Schinzel Syndrome 2 1 Roberts Syndrome 4 Roberts-SC Phocomelia Syndrome 1[preventiongenetics.com]

  • Autosomal Recessive Spastic Paraplegia Type 53

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Seizure Syndrome, Lethal Neonatal Spastic Paraplegia 15, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive Spastic Paraplegia 29, Autosomal Dominant Spastic[familydiagnosis.com] Neurodegenerationsyndrome Pontocerebellar Hypoplasia, Type 2B Pontocerebellar Hypoplasia, Type 2D Pontocerebellar Hypoplasia, Type 9 Pyruvate Carboxylase Deficiency Rigidity And Multifocal[familydiagnosis.com]

  • Myelocerebellar Disorder

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] […] dystonia Folinic acid-responsive seizures Fountain syndrome Fowler syndrome Fragile X syndrome Fragile X-associated tremor/ataxia syndrome Free sialic acid storage disease[se-atlas.de] Muscular Atrophy Progressive Supranuclear Palsy (PSP) Prosencephaly - Cerebellar Dysgenesis Pseudotumoral Form of Multiple Sclerosis Psychiatric Diseases Psychic Simple Partial Seizure[healthgrades.com]

  • Autosomal Dominant Spastic Paraplegia Type 8

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] The seizures are of multiple types and have their onset in the first year of life. The EEG often shows diffuse slowing, multifocal spikes and hypsarrhythmia.[disorders.eyes.arizona.edu]

  • Early Infantile Epileptic Encephalopathy Type 28

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Multifocal seizures Respiratory distress Thrombocytopenia Hypodontia Neutropenia Sepsis Pancreatitis Hyperammonemia Hemiplegia/hemiparesis Renal tubular dysfunction Short[mendelian.co] Homozygous mutations involving the WWOX gene were found on whole exome sequencing in both cases (deletion affecting exons 3 to 4 in case one, and splice-site mutation c.606[omicsonline.org]

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