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121 Possible Causes for ARV1

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  • Early Myoclonic Encephalopathy

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] ] (EIEE34) SLC12A5 [HSA: 57468 ] [KO: K14427 ] (EIEE35) ITPA [HSA: 3704 ] [KO: K01519 ] (EIEE36) ALG13 [HSA: 79868 ] [KO: K07432 ] (EIEE37) FRRS1L [HSA: 23732 ] (EIEE38) ARV1[genome.jp] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com]

  • Early Infantile Epileptic Encephalopathy

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] ] (EIEE34) SLC12A5 [HSA: 57468 ] [KO: K14427 ] (EIEE35) ITPA [HSA: 3704 ] [KO: K01519 ] (EIEE36) ALG13 [HSA: 79868 ] [KO: K07432 ] (EIEE37) FRRS1L [HSA: 23732 ] (EIEE38) ARV1[genome.jp] ALG11 , ALG12 , ALG13 , ALG2 , ALG3 , ALG6 , ALG8 , ALG9 , AMACR , AMPD2 , AMT , ANKLE2 , AP3B2 , APC2 , APOPT1 , ARFGEF2 , ARG1 , ARHGEF9 , ARID1A , ARID1B , ARSA , ARSB , ARV1[humangenetik-tuebingen.de]

  • Autosomal Recessive Mental Retardation 3

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com] CENTOGENE offers sequencing and deletion/duplication analysis for the Early infantile epileptic encephalopathy panel (genes: AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5[centogene.com]

  • KCNQ2-Related Epileptic Encephalopathy

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com] CENTOGENE offers sequencing and deletion/duplication analysis for the Early infantile epileptic encephalopathy panel (genes: AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5[centogene.com]

  • Malignant Migrating Partial Seizures of Infancy

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com] CENTOGENE offers sequencing and deletion/duplication analysis for the Early infantile epileptic encephalopathy panel (genes: AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5[centogene.com]

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com] CENTOGENE offers sequencing and deletion/duplication analysis for the Early infantile epileptic encephalopathy panel (genes: AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5[centogene.com]

  • Benign Familial Infantile Epilepsy

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com] CENTOGENE offers sequencing and deletion/duplication analysis for the Early infantile epileptic encephalopathy panel (genes: AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5[centogene.com]

  • Autosomal Recessive Mental Retardation 44

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com] CENTOGENE offers sequencing and deletion/duplication analysis for the Early infantile epileptic encephalopathy panel (genes: AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5[centogene.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. Hum Mol Genet. 2016 Jul 15;25(14):3042-3054. Kwong et al.[centogene.com] Congenital disorder of glycosylation, type Is; Epileptic encephalopathy, early infantile, 36 XL D 4 ARHGEF9 300429 Epileptic encephalopathy, early infantile, 8 XL R 7 ARV1[centogene.com] CENTOGENE offers sequencing and deletion/duplication analysis for the Early infantile epileptic encephalopathy panel (genes: AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5[centogene.com]

  • Benign Adult Familial Myoclonic Epilepsy

    ALG11 , ALG12 , ALG13 , ALG2 , ALG3 , ALG6 , ALG8 , ALG9 , AMACR , AMPD2 , AMT , ANKLE2 , AP3B2 , APC2 , APOPT1 , ARFGEF2 , ARG1 , ARHGEF9 , ARID1A , ARID1B , ARSA , ARSB , ARV1[humangenetik-tuebingen.de]

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