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6,016 Possible Causes for Epilepsy, Non-Hemolytic Unconjugated Hyperbilirubinemia, Psychomotor Development Delayed

  • Early Infantile Epileptic Encephalopathy Type 6

    We report on a patient who developed, from 5 months of age, multiple seizure types, including myoclonic, associated with severe psychomotor delay, leading to the diagnosis[] , resulting from exacerbated hemolysis) Chronic, non-immune hemolytic anemia High mean corpuscular hemoglobin concentration (MCHC) Presence of spherocytes in the peripheral[] KEYWORDS: Dravet Syndrome; Epilepsy classification; Genetic epilepsy; PCDH19-related epilepsy; SCN1A[]

  • Angelman Syndrome

    General symptoms Delayed psychomotor development. Muscle laxity and balance problems. Severe mental retardation. Epilepsy.[] 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[] RESULTS: All patients with AS based on a deletion had epilepsy. Epilepsy was present in 3/4 children with UBE3A mutation, and 4/5 with pUPD.[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Hartnup Disease

    […] of sex development 46,XX精巣性性分化異常症 46,XX testicular disorder of sex development 46,XY性分化異常症 46,XY disorder of sex development 外転神経疾患 abducens nerve disease 欠神てんかん absence epilepsy[] What is Epilepsy?[] 耳疾患 ear disease 摂食障害 eating disorder 湿疹性皮膚疾患 eczematous skin disease 排泄障害 elimination disorder 内分泌系疾患 endocrine system disease 好酸球性胃腸炎 eosinophilic gastroenteritis てんかん epilepsy[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Mucolipidosis Type 1

    Mucolipidosis IV (ML4) is a neurodegenerative condition that is characterised by significant psychomotor and cognitive development delay, visual impairment, and poor muscle[] Make your way through the epilepsy maze Epilepsy is a complex neurological condition.[] People with typical mucolipidosis type IV have delayed development of mental and motor skills (psychomotor delay).[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Brandt Syndrome

    Icterus intermittens juvenilis; Low-grade chronic hyperbilirubinemia; Familial non-hemolytic-non-obstructive jaundice; Constitutional liver dysfunction; Unconjugated benign[] Imagine the symptoms of autism, cerebral palsy, Parkinson’s, epilepsy and anxiety… all in one little girl.[]

  • Alexander Disease

    The main characteristics of infantile and juvenile AxD include delayed psychomotor development or mental retardation, convulsions, macrocephaly, and predominant cerebral white[] This case reports a female who presented at the age of 5 months with refractory epilepsy and hypotonia.[] Although most patients with infantile Alexander disease have epilepsy, infantile spasms are rare.[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Leigh's Disease

    delay – a delayed development of intellect and motor ability Dystonia – uncontrollable muscle contractions causing repetitive twisting movements Epilepsy - The condition[] […] gabapentin and baclofen is indicated in such circumstances, and in severe cases, botulinum toxin is used, while antiepileptic drugs are also frequently given because of epilepsy[] Epilepsy is relatively uncommon.[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Acrocallosal Syndrome

    Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.[] […] breaking and he is recognised as one the leading authorities on epilepsy.[] An eight year old female with severe developmental delays, epilepsy, left postaxial polydactyly of the hand and abnormalities of brain development including hydrocephalus,[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Farber Disease

    In some patients, the disease manifests in childhood as a spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME) in the absence of subcutaneous nodules[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia
  • Argininosuccinic Aciduria

    RESULTS: Epilepsy in our sample was frequent (55 %).[] […] argininosuccinic aciduria [MIM*207900] an autosomal-recessive disorder characterized by excessive urinary excretion of argininosuccinic acid, epilepsy, ataxia, mental retardation[] Even with treatment, they can develop life-long problems including learning difficulties, behavioural problems, epilepsy and liver damage.”[]

    Missing: Non-Hemolytic Unconjugated Hyperbilirubinemia

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