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12 Possible Causes for Global Hypotonia, Parietal Focal Spikes

  • West Syndrome

    A 5 year-old boy exhibited global hypotonia with generalized muscle weakness from birth.[ncbi.nlm.nih.gov] His MRI also picked up that his brain wasn't quite fully formed at the front and sides and this had resulted in him having global developmental delay and hypotonia (floppy[netmums.com]

  • Generalized Clonic or Tonic-Clonic Seizures

    […] developmental delay Generalized hypotonia SOURCES: ORPHANET OMIM ICD10 NCIT MONDO More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1 Top 5 symptoms//phenotypes associated[mendelian.co] […] seizures Pica Epileptic spasms EEG with irregular generalized spike and wave complexes Enhancement of the C-reflex Dysphagia Urinary bladder sphincter dysfunction Severe global[mendelian.co] Tetraplegia Neurodegeneration Spastic tetraplegia Epileptic encephalopathy Intellectual disability, profound Status epilepticus Hypoplasia of the corpus callosum Muscular hypotonia[mendelian.co]

  • Encephalopathy

    We describe a multiplex consanguineous family in which four affected members presented with severe neonatal hypotonia, profound global developmental delay, progressive microcephaly[ncbi.nlm.nih.gov] Global developmental delay can be evident by this age or the patients may present with encephalopathy or hypotonia. 2 , 7 , 8 Classification by age of onset into an early[pediatrics.aappublications.org]

  • Neonatal Seizures

    At that time, neurological examination showed severe global hypotonia with consequent developmental delay; however no focal deficits were detected.[scielo.br]

  • Panayiotopoulos Syndrome

    , with or without extreme somatosensory evoked spikes.[pediatricneurology.wordpress.com] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] Considerations on Nomenclature These are detailed in the individual description of each of these benign childhood focal syndromes.[pediatricneurology.wordpress.com]

  • Kabuki Syndrome

    Interictal electroencephalogram revealed focal paroxysmal epileptiform discharges (in frontal, central, and parietal regions) in three patients, diffuse high-voltage spike-and-waves[ncbi.nlm.nih.gov] Almost all patients have mild to moderate intellectual deficit and may present with neurological manifestations such as hypotonia or seizures.[orpha.net] In contrast, focal seizures were not controlled in the early period of antiepileptic therapy.[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy 14

    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] Additional neurologic features include hypotonia, microcephaly developing by age 12 months, strabismus, profound global developmental delay, and additional movement disorders[ncbi.nlm.nih.gov] Table 4 Clinical features of six sporadic cases with SCN8A gene mutation Patient 1 M 1 y, 15 m 2 m Focal seizure Head control (15 m), unable to sit alone (1 y, 15 m) Severe[bmcmedgenet.biomedcentral.com]

  • Early Infantile Epileptic Encephalopathy 18

    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] - Between 80% and 100% cases Global developmental delay Common - Between 50% and 80% cases Generalized hypotonia Common - Between 50% and 80% cases Hypsarrhythmia Common -[mendelian.co] Table 4 Clinical features of six sporadic cases with SCN8A gene mutation Patient 1 M 1 y, 15 m 2 m Focal seizure Head control (15 m), unable to sit alone (1 y, 15 m) Severe[bmcmedgenet.biomedcentral.com]

  • Familial Focal Epilepsy with Variable Foci

    Frontal (7%), occipital (4%), or parietal lobe epilepsy (1%); benign epilepsy with centrotemporal spikes/rolandic epilepsy (4%); focal epilepsy associated with structural[epilepsyu.com] […] developmental delay, hypotonia, progressive microcephaly EEG findings: Burst-suppression pattern Myoclonic jerks do not correlate with EEG changes Management considerations[emilytam.com] Clinical features: Triad: Myoclonic jerks Erratic, fragmented, random, asynchronous, asymmetric Massive axial bilateral myoclonus Focal seizures Tonic seizures Encephalopathy, global[emilytam.com]

  • Early Infantile Epileptic Encephalopathy 28

    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] Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: UMLS MONDO OMIM More info about[mendelian.co] Table 4 Clinical features of six sporadic cases with SCN8A gene mutation Patient 1 M 1 y, 15 m 2 m Focal seizure Head control (15 m), unable to sit alone (1 y, 15 m) Severe[bmcmedgenet.biomedcentral.com]

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