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Browse result for Early infantile epileptic encephalopathy

※ introduction

    Ohtahara syndrome (OS), also known as Early Infantile Developmental & Epileptic Encephalopathy (EIDEE) is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures within the first few months of life, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG). It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe intellectual disabilities. No single cause has been identified, although in many cases structural brain damage is present.

Reference
Wiki: Early infantile epileptic encephalopathy



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01090P354986323
SCN1A
Sodium channel protein type 1 subunit alpha
Homo sapiens
PTMD01914Q9NZC751741
WWOX
WW domain-containing oxidoreductase
Homo sapiens
PTMD02714O435263785
KCNQ2
Potassium voltage-gated channel subfamily KQT member 2
Homo sapiens
PTMD02935O6074134898
HCN1
Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
Homo sapiens
PTMD03246O760396792
CDKL5
Cyclin-dependent kinase-like 5
Homo sapiens
PTMD03336O9498922899
ARHGEF15
Rho guanine nucleotide exchange factor 15
Homo sapiens
PTMD03928P094712775
GNAO1
Guanine nucleotide-binding protein G subunit alpha
Homo sapiens
PTMD05311P4958816
AARS1
Alanine--tRNA ligase, cytoplasmic
Homo sapiens
PTMD05696P5705910272
SIK1
Serine/threonine-protein kinase SIK1
Homo sapiens
PTMD05821P617646812
STXBP1
Syntaxin-binding protein 1
Homo sapiens
PTMD05836P619817532
YWHAG
14-3-3 protein gamma [Cleaved into: 14-3-3 protein gamma, N-terminally processed]
Homo sapiens
PTMD06227Q056391917
EEF1A2
Elongation factor 1-alpha 2
Homo sapiens
PTMD06362Q112036487
ST3GAL3
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase GlcNAc alpha-2,3 sialyltransferase)
Homo sapiens
PTMD06630Q138136709
SPTAN1
Spectrin alpha chain, non-erythrocytic 1
Homo sapiens
PTMD06806Q147213745
KCNB1
Potassium voltage-gated channel subfamily B member 1
Homo sapiens
PTMD09977Q8NCM227133
KCNH5
Potassium voltage-gated channel subfamily H member 5
Homo sapiens
PTMD10227Q8TAB357526
PCDH19
Protocadherin-19
Homo sapiens
PTMD11207Q96F0726999
CYFIP2
Cytoplasmic FMR1-interacting protein 2
Homo sapiens
PTMD11566Q96N6785440
DOCK7
Dedicator of cytokinesis protein 7
Homo sapiens
PTMD11691Q96QS317030
ARX
Homeobox protein ARX
Homo sapiens
PTMD11785Q96T6011284
PNKP
Bifunctional polynucleotide phosphatase/kinase [Includes: Polynucleotide 3'-phosphatase -polynucleotidase); Polynucleotide 5'-hydroxyl-kinase ]
Homo sapiens
PTMD12967Q9H93679751
SLC25A22
Mitochondrial glutamate carrier 1 symporter 1)
Homo sapiens
PTMD13204Q9NP7379868
ALG13
UDP-N-acetylglucosamine transferase subunit ALG13
Homo sapiens
PTMD13269Q9NQ6623236
PLCB1
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
Homo sapiens
PTMD13694Q9NY479254
CACNA2D2
Voltage-dependent calcium channel subunit alpha-2/delta-2 [Cleaved into: Voltage-dependent calcium channel subunit alpha-2-2; Voltage-dependent calcium channel subunit delta-2]
Homo sapiens
PTMD14413Q9ULP957465
TBC1D24
TBC1 domain family member 24
Homo sapiens
PTMD14582Q9UQD06334
SCN8A
Sodium channel protein type 8 subunit alpha
Homo sapiens