Epileptic Encephalopathy, Early Infantile, 36; Eiee36

Description

Early infantile epileptic encephalopathy-36 is an X-linked dominant neurodevelopmental disorder characterized by onset of seizures in infancy followed by delayed psychomotor development. Some patients may have dysmorphic features. Only females with this specific phenotype have been reported (summary by Dimassi et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.For a discussion of the classification of CDGs, see CDG1A (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 36; Eiee36

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia
  • Abnormal facial shape
And another 43 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available there are 1 published cases of Epileptic Encephalopathy, Early Infantile, 36; Eiee36 in Europe.


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Epileptic Encephalopathy, Early Infantile, 36; Eiee36 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc in United States.

UBE3A, ADSL, SLC25A19, MECP2, LIAS, STXBP1, SLC25A22, ALG9, GLDC, AMT, SLC9A6, WWOX, ARX, CDKL5, FOXG1, PCDH19, SLC2A1, SYNGAP1, SCN1A, KCNJ11 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.

By Athena Diagnostics Inc in United States.

ADSL, HSD17B10, MECP2, ABAT, GAMT, GATM, ALG9, SLC9A6, SLC6A8, ARX, CDKL5, CHRNA7, PCDH19, PLP1, SMC1A, GPC3, DPYD, SLC35A2, FOLR1, GABRB2 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Congenital Disorders of Glycosylation.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

ATP6V0A2, SRD5A3, GNE, DDOST, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Early Infantile Epileptic Encephalopathy Panel.

By Genetic Services Laboratory University of Chicago in United States.

POLG, STXBP1, SLC25A22, ETHE1, WWOX, ARX, CDKL5, PCDH19, SLC2A1, SYNGAP1, SCN1A, EFHC1, GABRB3, ST3GAL5, SCN2A, GRIN2B, HCN1, KCNT1, KCNQ2, CHD2 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, POLG, MECP2, GAMT, GATM, STXBP1, TUSC3, CTSD, SLC25A22, GRN, OTC, PDHA1, TIMM8A , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
IDNext.

By Ambry Genetics in United States.

FMR1, UBE3A, PTEN, ATP7A, OCRL, NDP, HPRT1, NHS, MECP2, GAMT, GATM, TUSC3, SLC25A22, OTC, PDHA1, TIMM8A, MAOA, ACSL4, SLC9A6, ABCD1 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

UBE3A, POLG, MECP2, GAMT, GATM, STXBP1, CTSD, SLC25A22, ALDH7A1, TPP1, CLN3, WWOX, SLC6A8, ARX, CDKL5, CHRNA7, FOXG1, MEF2C, PCDH19, SLC2A1 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Glycosylation disorder type Is (sequence analysis of ALG13 gene).

By CGC Genetics in Portugal.

ALG13
Specificity
100 %
Genes
100 %
Congenital disorders of glycosylation (NGS panel for 39 genes).

By CGC Genetics in Portugal.

SRD5A3, DDOST, DPM3, PGM1, RFT1, COG1, COG8, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3 , (...)

View the complete list with 19 more genes
Specificity
3 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
X-Linked Intellectual Disability Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FMR1, HSD17B10, NDP, HPRT1, NHS, MECP2, OTC, PDHA1, GK, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, ARX, CDKL5, IDS , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Epilepsy: ALG13-Related Early Infantile Epileptic Encephalopathy via ALG13 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ALG13
Specificity
100 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG).

By MGZ Medical Genetics Center in Germany.

SRD5A3, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1, SLC35A1, ALG6, MPI , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Glycosylation disorder type 1S.

By Centogene AG - the Rare Disease Company in Germany.

ALG13
Specificity
100 %
Genes
100 %
Epileptic Encephalopathy Panel.

By CeGaT GmbH in Germany.

MTHFR, UBE3A, ADSL, CPT2, MECP2, GAMT, STXBP1, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH7A1, MOCS2, MOCS1, ARX, CDKL5, FOXG1, MEF2C, PCDH19 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG) Panel.

By CeGaT GmbH in Germany.

SRD5A3, DDOST, DPM3, PGM1, RFT1, COG1, COG8, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Muscular Dystrophies Panel.

By CeGaT GmbH in Germany.

CAVIN1, DPM1, DMD, FKTN, POMGNT1, LMNA, PABPN1, FKRP, DYSF, TTN, ANO5, FHL1, SELENON, SYNE1, TMEM43, SYNE2, EMD, POMT2, POMT1, TCAP , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Congenital Disorders of Glycosylation (CDG) Panel.

By CeGaT GmbH in Germany.

SRD5A3, DDOST, DPM3, PGM1, RFT1, COG1, COG8, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1, ALG6, MPI, ALG3 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
Invitae Epilepsy Panel.

By Invitae in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
100 %
Invitae Congenital Disorders of Glycosylation Panel.

By Invitae in United States.

ATP6V0A2, SRD5A3, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, SLC35A1, ALG6, MPI , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Congenital disorder of N-linked glycosylation (CDG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

DDOST, PGM1, RFT1, TUSC3, ALG9, ALG1, ALG8, ALG2, ALG12, ALG6, MPI, ALG3, MGAT2, PMM2, DPAGT1, MOGS, GFPT1, ALG13, ALG11, TMEM165 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Congenital Disorders of Glycosylation: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG12, B4GALT1 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
100 %
Congenital Disorder of Glycosylation Type Is: ALG13 Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALG13
Specificity
100 %
Genes
100 %
Congenital Disorder of Glycosylation Is: ALG13 Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ALG13
Specificity
100 %
Genes
100 %
Congenital Disorders of Glycosylation: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

B4GALT7, ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG8, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Congenital Disorders of Glycosylation NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1, SLC35A1 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
ALG13.

By Fulgent Genetics Fulgent Genetics in United States.

ALG13
Specificity
100 %
Genes
100 %
Essential Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, POLG, MECP2, GAMT, STXBP1, SLC25A22, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, SLC2A1, TSC2, SYNGAP1, TSC1, SCN1A, CHRNB2 , (...)

View the complete list with 50 more genes
Specificity
2 %
Genes
100 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
X-chromosome High Resolution microarray analysis.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.

ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)

View the complete list with 140 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Blueprint Genetics in Finland.

ATP6V0A2, SRD5A3, GNE, DDOST, DHDDS, DPM3, PGM1, RFT1, COG1, COG8, TUSC3, MPDU1, DPM1, COG7, ALG9, ALG1, ALG8, ALG2, ALG12, B4GALT1 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Epileptic Encephalopathy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ADSL, CPT2, POLG, NDUFS4, MECP2, DNM1L, TTC19, NUBPL, ABAT, GAMT, STXBP1, SLC25A22, GLDC, AMT, ETHE1, D2HGDH, SLC9A6 , (...)

View the complete list with 108 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics in Finland.

HTT, MTHFR, UBE3A, ARG1, BTD, ADSL, AMACR, CPT2, PSAP, GLB1, PRODH, GNE, HSD17B10, POLG, NDUFS4, HSPD1, AFG3L2, FOXRED1, FH, MECP2 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.

By Reference Laboratory Genetics in Spain.

SLC25A12, STXBP1, ARX, CDKL5, PCDH19, SCN1A, CACNA1A, GABRB3, SCN9A, SCN2A, GRIN2B, HCN1, KCNQ2, GABRA1, ALG13, TBC1D24, DNM1, ST3GAL3, SCN8A, PIGA , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %

Alternate names

Epileptic Encephalopathy, Early Infantile, 36; Eiee36 Is also known as ;cdg syndrome type is; cdg-is; cdg1s; congenital disorder of glycosylation type 1s; congenital disorder of glycosylation type is.



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