Epileptic Encephalopathy, Early Infantile, 35; Eiee35
Description
Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.
Genes related to Epileptic Encephalopathy, Early Infantile, 35; Eiee35
- ITPA
Clinical Features
Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 35; Eiee35
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Cataract
- Myopathy
- Feeding difficulties
- Intrauterine growth retardation
- Cardiomyopathy
- Cerebral atrophy
Incidence and onset information
— Not enough data available about incidence and published cases.
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Epileptic Encephalopathy, Early Infantile, 35; Eiee35 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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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 % |
Inosine triphosphatase deficiency (ITPA).
By VU University Medical Center Metabolic Unit, PX 1X 009 in Netherlands.
ITPA
Specificity
100 %
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 % |
ITPA.
By Fulgent Genetics Fulgent Genetics in United States.
ITPA
Specificity
100 %
Genes
100 % |
Susceptibility to Drugs , Sequencing ITPA Gene.
By Reference Laboratory Genetics in Spain.
ITPA
Specificity
100 %
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 % |
Methotrexate response.
By Xcode Life Xcode Life in India.
ITPA
Specificity
100 %
Genes
100 % |
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