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28 Possible Causes for Epilepsy, Generalized Spike-and-Slow-Waves, Mild Cerebellar Hypoplasia

  • Benign Adult Familial Myoclonic Epilepsy

    , high-amplitude spike and slow-wave complexes 3.5 Hz, typically 4 s duration.  Absence seizures in JAE are more sporadic.  EEG is slightly faster with generalized spike[slideshare.net] […] dominant cortical myoclonus and epilepsy, benign adult familial myoclonic epilepsy, familial adult myoclonic epilepsy, and familial cortical myoclonic tremor and epilepsy[medlink.com] hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net]

  • West Syndrome

    Lennox-Gastaut Syndrome: LGS is characterized by multiple types of seizures and an abnormal EEG with generalized slow spikewave discharges.[cdkl5.com] The incidence of epilepsy was significantly lower in these treated subjects.[ncbi.nlm.nih.gov] Magnetic resonance imaging of the brain revealed mild cerebral and cerebellar atrophy, high-signal-intensity areas in the white matter, and hypoplasia of the corpus callosum[ncbi.nlm.nih.gov]

  • Unverricht-Lundborg Syndrome

    Slow ( 2.5 Hz) electroencephalographic spike and wave discharges in atypical absence epilepsy (ie, Lennox-Gastaut syndrome). Spike, generalized.[emedicine.medscape.com] Many of the genes that have been implicated in idiopathic epilepsies code for ion channels, whereas a wide spectrum of syndromes where epilepsy is a main clinical feature[books.google.com] hypoplasia-hydranencephaly syndrome Multiple acyl-CoA dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency, mild type Multiple acyl-CoA dehydrogenase deficiency[orpha.net]

  • Neuronal Ceroid Lipofuscinosis

    EEG revealed frequent generalized spikes, polyspikes, and waves, prominent on awakening and during photic stimulation without significant change throughout the clinical course[ncbi.nlm.nih.gov] Northern epilepsy is an autosomal recessive childhood onset epilepsy syndrome, clinically characterized by generalized tonic-clonic seizures with onset at 5 to 10 years of[ncbi.nlm.nih.gov] cerebellar ataxia and white matter edema Leukonychia totalis Leukotriene C4 synthase deficiency Levine-Critchley syndrome Levy-Hollister syndrome Lewandowsky-Lutz syndrome[csbg.cnb.csic.es]

  • Angelman Syndrome

    EEG demonstrates high-amplitude 2-3Hz delta activity with spike and slow-wave discharges and sleep-activated generalized epileptiform discharges.[ncbi.nlm.nih.gov] Background: Autism spectrum disorder and epilepsy often co-occur; however, the extent to which the association between autism symptoms and epilepsy is due to shared aetiology[ncbi.nlm.nih.gov] Cerebellar hypoplasia Seizures Pathophysiology [ edit ] Adenylosuccinate lyase deficiency is responsible for a range of symptoms that involve psychomotor retardation, often[en.wikipedia.org]

  • 2-Hydroxyglutaric Aciduria

    EEG findings included irregular background activity and slowing, focal or generalized spikes and slow wave discharges.[doi.org] The epilepsy was partially controlled with antiepileptic drugs.[ncbi.nlm.nih.gov] Brain malformations described in association with 22q11.2 deletion syndrome include polymicrogyria, cerebellar hypoplasia, megacisterna magna, and agenesis of the corpus callosum[ncbi.nlm.nih.gov]

  • Ehlers-Danlos Syndrome with Periventricular Heterotopia

    Yes16 Sheen, 2005 F, 25 N.A. 17 Generalized(catamenial)Excessive slow wave activity N.A. N.A. Yes17 Sheen, 2005 F, 53 N.A. Epilepsy sincechildhoodN.A. N.A. N.A. N.A.[docslide.com.br] @inproceedings{Savasta2015UnilateralPH, title {Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers–Danlos syndrome}, author {Salvatore Savasta and Alberto[semanticscholar.org] Three unrelated boys with a new multiple congenital anomaly‐mental retardation syndrome consisting of PNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and[ncbi.nlm.nih.gov]

  • Adult-Onset Autosomal Recessive Cerebellar Ataxia

    There is a burst of generalized discharges of spikes, multiple spikes and slow waves at 4 to 5 Hz, with greater voltage on the left.[academic.oup.com] : no evidence for an epilepsy locus in the HLA region.[books.google.com] […] ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening and gyral simplification[ajnr.org]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    There is a burst of generalized discharges of spikes, multiple spikes and slow waves at 4 to 5 Hz, with greater voltage on the left.[academic.oup.com] Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany[epilepsygenetics.net] cerebellar hypoplasia or vermian aplasia • Joubert syndrome – absence of cerebellar vermis and “molar tooth sign” at cerebellar & mid brain junction • Fragile X associated[slideshare.net]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    slow spike-and-wave discharges Affected LGS patients have different degrees of developmental delay and they often develop autism and intellectual disability 43 Patients react[centogene.com] Based on the currently available data on the epilepsy phenotype, most epilepsies have a generalized component.[epilepsygenetics.net] […] ataxia and mental retardation known as the disequilibrium syndrome. 36, 45 Imaging shows significant cerebellar hypoplasia and mild cerebral cortex thickening and gyral simplification[ajnr.org]

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