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89 Possible Causes for Epileptic Encephalopathy with Psychomotor Retardation

  • West Syndrome

    West syndrome is a rare epileptic encephalopathy of early infancy, characterized by epileptic spasms, hypsarrhythmia, and psychomotor retardation beginning in the first year[ncbi.nlm.nih.gov] At 5months of age, our patient presented with epileptic spasms and hypsarrhythmia by electroencephalogram. Psychomotor retardation was observed from early infancy.[ncbi.nlm.nih.gov] Abstract West syndrome is a kind of epileptic encephalopathy causing many different psychomotor disturbances--feet and hand movements, cognitive dysfunctions and mental retardation[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 17

    […] the electroencephalogram, and severe psychomotor retardation.[ncbi.nlm.nih.gov] Here we described mitochondrial dysfunctions in a very severe, intractable and relatively rare neonatal epileptic encephalopathy, the Ohtahara syndrome.[oadoi.org] Ohtahara syndrome (OS, OMIM#308350, ORPHA1934) is an early-onset epileptic encephalopathy (EOEE) characterised by spasms, intractable seizures, suppression-burst pattern on[ncbi.nlm.nih.gov]

  • Familial Recurrent Peripheral Facial Palsy

    […] spasms-broad thumbs syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset X-linked spinal muscular atrophy[se-atlas.de] encephalopathy Infantile glycine encephalopathy Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile onset spinocerebellar ataxia Infantile[se-atlas.de] […] cerebellar atrophy with postnatal progressive microcephaly Infantile convulsions and choreoathetosis Infantile dystonia-parkinsonism Infantile epilepsy syndrome Infantile epileptic-dyskinetic[se-atlas.de]

  • Early Infantile Epileptic Encephalopathy Type 2

    Here we described mitochondrial dysfunctions in a very severe, intractable and relatively rare neonatal epileptic encephalopathy, the Ohtahara syndrome.[dx.doi.org] retardation and characteristic facies 2 AR 26 20 WDR45 Neurodegeneration with brain iron accumulation XL 46 78 WWOX Epileptic encephalopathy, early infantile, Spinocerebellar[blueprintgenetics.com] retardation or death.[dx.doi.org]

  • Hereditary Hyperekplexia

    retardation and characteristic facies 2 AR 24 16 WDR45 Neurodegeneration with brain iron accumulation XL 37 70 WWOX Epileptic encephalopathy, early infantile, Spinocerebellar[blueprintgenetics.com] retardation with or without seizures AR 13 13 HCN1 Epileptic encephalopathy, early infantile AD 13 14 HECW2 Neurodevelopmental disorder with hypotonia, seizures, and absent[blueprintgenetics.com] encephalopathy, early infantile, 44, Spinocerebellar ataxia, autosomal recessive 24 AR 16 14 UBE3A * Angelman syndrome AD 165 193 UNC80 Hypotonia, infantile, with psychomotor[blueprintgenetics.com]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    […] spasms-broad thumbs syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset X-linked spinal muscular atrophy[se-atlas.de] encephalopathy Infantile glycine encephalopathy Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile onset spinocerebellar ataxia Infantile[se-atlas.de] […] cerebellar atrophy with postnatal progressive microcephaly Infantile convulsions and choreoathetosis Infantile dystonia-parkinsonism Infantile epilepsy syndrome Infantile epileptic-dyskinetic[se-atlas.de]

  • Distal Hereditary Motor Neuropathy Type 1

    […] spasms-broad thumbs syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset X-linked spinal muscular atrophy[se-atlas.de] encephalopathy Infantile glycine encephalopathy Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile onset spinocerebellar ataxia Infantile[se-atlas.de] […] cerebellar atrophy with postnatal progressive microcephaly Infantile convulsions and choreoathetosis Infantile dystonia-parkinsonism Infantile epilepsy syndrome Infantile epileptic-dyskinetic[se-atlas.de]

  • Encephalopathy

    DIAGNOSES: Early-onset epileptic encephalopathy with STXBP1 mutation.[ncbi.nlm.nih.gov] ACTH is an effective drug for early-onset epileptic encephalopathy caused by STXBP1 mutation.[ncbi.nlm.nih.gov] She had frequent spasm attacks accompanied by obvious psychomotor development retardation since the neonatal period.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 2J

    […] spasms-broad thumbs syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset X-linked spinal muscular atrophy[se-atlas.de] encephalopathy Infantile glycine encephalopathy Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile onset spinocerebellar ataxia Infantile[se-atlas.de] […] cerebellar atrophy with postnatal progressive microcephaly Infantile convulsions and choreoathetosis Infantile dystonia-parkinsonism Infantile epilepsy syndrome Infantile epileptic-dyskinetic[se-atlas.de]

  • Optic Atrophy-Intellectual Disability Syndrome

    […] spasms-broad thumbs syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Infantile-onset X-linked spinal muscular atrophy[se-atlas.de] encephalopathy Infantile glycine encephalopathy Infantile neuroaxonal dystrophy Infantile neuronal ceroid lipofuscinosis Infantile onset spinocerebellar ataxia Infantile[se-atlas.de] […] cerebellar atrophy with postnatal progressive microcephaly Infantile convulsions and choreoathetosis Infantile dystonia-parkinsonism Infantile epilepsy syndrome Infantile epileptic-dyskinetic[se-atlas.de]

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