Disease #00264 (DEE1 (encephalopathy, developmental and epileptic, type 1), OMIM:308350)

Official abbreviation DEE1
Name encephalopathy, developmental and epileptic, type 1
OMIM ID 308350
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 34
Phenotype entries for this disease 31
Associated with 1 gene ARX
Associated tissues -
Disease features -
Remarks -
Date created 2013-11-01 17:47:51 +01:00 (CET)
Date last edited 2022-12-30 12:35:14 +01:00 (CET)


Individuals

34 entries on 1 page. Showing entries 1 - 34.
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00003174 - PubMed: Bruyere 1999 large multigeneration family, 8 affected males M no Canada - - - - - DEE1 mental retardation, epilepsy ARX ARX 1 8 Johan den Dunnen
00003175 - PubMed: Claes 1997 family, 2 affected males M no Belgium - - - - - DEE1 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy ARX ARX 1 2 Johan den Dunnen
00003176 - PubMed: Stromme 1999 family, 7 affected males M no Norway - - - - - DEE1 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy ARX ARX 1 7 Johan den Dunnen
00003181 - PubMed: Scheffer 2002 3-generation family, 6 affected males, 3 unaffected carrier females M no Australia - - - - - DEE1 mental retardation, myoclonic epilepsy, spasticity ARX ARX 1 6 Johan den Dunnen
00003182 - PubMed: Stromme 2002 family, 2 affected males M no Norway - - - - - DEE1 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy ARX ARX 1 2 Johan den Dunnen
00227778 - PubMed: Deprez 2010 - - - - white - - - - DEE1 initial diagnosis atypical West syndrome STXBP1 STXBP1 1 1 LOVD
00227779 - PubMed: Tohyama 2008 - F - Japan - - - - - DEE1 slight psychomotor development with eye contact, no head control SPTBN1, STXBP1 STXBP1 1 1 LOVD
00227780 - PubMed: Mignot 2011 - F - (France) - - - - - DEE1 severe MR, nail dysplasia, sterotypes, No walking, tremor STXBP1 STXBP1 1 1 LOVD
00227781 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - STXBP1 STXBP1 1 1 LOVD
00227782 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - STXBP1 STXBP1 1 1 LOVD
00227784 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - STXBP1 STXBP1 1 1 LOVD
00227785 - PubMed: Deprez 2010 - - - - white - - - - DEE1 - STXBP1 STXBP1 1 1 LOVD
00227786 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - STXBP1 STXBP1 1 1 LOVD
00227787 - PubMed: Deprez 2010 - - - - white - - - - DEE1 evolution to West syndrome STXBP1 STXBP1 1 1 LOVD
00227789 - PubMed: Deprez 2010 - - - - white - - - - DEE1 evolution to West syndrome STXBP1 STXBP1 1 1 LOVD
00227790 - PubMed: Deprez 2010 - - - - white - - - - DEE1 evolution to West syndrome STXBP1 STXBP1 1 1 LOVD
00227791 - PubMed: Deprez 2010 - - - - white - - - - DEE1 - STXBP1 STXBP1 1 1 LOVD
00227793 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227794 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227795 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; no head control, no social contact, severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227796 - PubMed: Saitsu 2010 - F - Japan - - - - - DEE1 suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227797 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; evolution to West syndrome; no head control, no social contact, severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227798 - PubMed: Saitsu 2010 - F - Japan - - - - - DEE1 suppression-burst; moderate MR, Quadriplegia; eye pursuit and smiling from 4m, head control and rolling over from 6m STXBP1 STXBP1 1 1 LOVD
00227799 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; no head control, no social contact, severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227800 - {PMID 20887364:Saitsu 2010} - F - Japan - - - - - DEE1 suppression-burst; evolution to West syndrome; no head control, smiling from 5m, severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227801 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; evolution to West syndrome; no head control, no social contact, Severe MR, spastic quadriplegia STXBP1 STXBP1 1 1 LOVD
00227802 - PubMed: Saitsu 2010 father somatic mosaic for variant F - Japan - - - - - DEE1 suppression-burst; hypertonic, no head control, no smile; mild rigospastic quadriplegia, profound developmental delay STXBP1 STXBP1 1 1 LOVD
00227804 - PubMed: Otsuka 2010 - M - (Japan) - - - - - DEE1 No head control, No visual attention, Hypotonia STXBP1 STXBP1 1 1 LOVD
00227805 - PubMed: Otsuka 2010 - F - (Japan) - - - - - DEE1 suppression-burst; Poor head control, poor visual attention, poor eye pursuit, severe hypotonia STXBP1 STXBP1 1 1 LOVD
00227808 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Dyskinesia, hand stereotypes, Ataxic walking, No speech, Autistic features STXBP1 STXBP1 1 1 LOVD
00227809 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Dyskinesia, Axial hypertonia STXBP1 STXBP1 1 1 LOVD
00227810 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Dyskinesia, No speech, Ataxic walking, sterotypic movements, Autistic features STXBP1 STXBP1 1 1 LOVD
00227811 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 No walk, No speech STXBP1 STXBP1 1 1 LOVD
00227812 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Axial hypertonia, autistic features STXBP1 STXBP1 1 1 LOVD
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