All individuals with variants in gene STXBP1

106 entries on 2 pages. Showing entries 1 - 100.
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00037204 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037205 - - - - - Germany - - - - - ? Ohtahara syndrome with therapyrefractary epilepsy, macrencephaly, hepatomegaly, global retardation; other patient: severe therapyrefractary epilepsy 1 1 Andreas Laner
00037206 - - - - - Germany - - - - - ? suspected West syndrome 1 1 Andreas Laner
00037207 - - - - - Germany - - - - - ? early childhood severe neonatal epilepsy , microcephaly,severe retardation 1 1 Andreas Laner
00037208 - - - - - Germany - - - - - ? develpomental delay, West syndrome, suspected nonketotic hyperglycinaemia 1 1 Andreas Laner
00037209 - - - - - Germany - - - - - ? Ohtahara syndrome 1 1 Andreas Laner
00037210 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037211 - - - - - Germany - - - - - ? RETT syndrome, Dysmorphiesyndrom mit muskulärer statomotorischer sprachlicher Retardierung unklarer Ätiologie, muskuläre Hypotonie, mild ataxia, epilepsy, mikrocephaly 1 1 Andreas Laner
00037212 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037213 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00050387 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? deep philtrum, exaggerated cupids bow, macrocephaly, echolalia, global developmental delay, seizures, malar flattening 1 1 Johan den Dunnen
00050413 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, intellectual disability, constipation, downslanted palpebral fissures, malar flattening, anteverted nares 1 1 Johan den Dunnen
00050536 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? seizures, global developmental delay, delayed speech and language development, tapered finger 1 1 Johan den Dunnen
00050574 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? cognitive impairment 1 1 Johan den Dunnen
00050600 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, astigmatism, narrow mouth, depressed nasal bridge, round face, tapered finger, upslanted palpebral fissure, inverted nipples, infantile axial hypotonia, malar flattening, increased body weight, stereotypic behavior, broad-based gait 1 1 Johan den Dunnen
00050690 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? polyhydramnios, global developmental delay, autism, ataxia, recurrent hand flapping, broad-based gait, delayed speech and language development, high-pitched coarse voice, intermittent hyperventilation, generalized seizures 1 1 Johan den Dunnen
00081013 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - DEE4 Epileptic encephalopathy, early infantile, 4 (OMIM:612164) 1 1 Daniel Trujillano
00081026 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - DEE4 Epileptic encephalopathy, early infantile, 4 (OMIM:612164) 1 1 Daniel Trujillano
00116881 S_267:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00132970 - - - M - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00144673 - - - M - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 2 1 IMGAG
00177023 73805 - - M no Afghanistan - - - - - EE HP:0008936 HP:0002313 HP:0005348 HP:0007028 HP:0007337 HP:0006811 HP:0002469 HP:0000340 HP:0002705 HP:0005257 HP:0000767 HP:0001212 1 1 Anaïs Begemann
00181099 52236 - - F no Switzerland - - - - - EE HP:0000316 HP:0000331 HP:0000675 HP:0000699 HP:0000411 HP:0002808 HP:0001956 HP:0001763 HP:0001852 1 1 Anaïs Begemann
00208545 - - - F - Germany - - - - - - HP:0001332 (Dystonia); HP:0000202 (Oral cleft); HP:0002571 (Achalasia) 1 1 Andreas Laner
00209024 28771251-Pat41 PubMed: Lionel 2018 - M - Canada - - - - - epilepsy Epilepsy and global developmental delay 1 1 Johan den Dunnen
00209034 28771251-Pat63 PubMed: Lionel 2018 - M - Canada - - - - - MR;ID Epilepsy, intellectual disability, and focal cortical dysplasia 1 1 Johan den Dunnen
00227777 - PubMed: Moretti 2005 - F - - - - - - - ? hypotonia, developmental delay and regression, ataxia, and autistic features 1 1 LOVD
00227778 - PubMed: Deprez 2010 - - - - white - - - - DEE1 initial diagnosis atypical West syndrome 1 1 LOVD
00227779 - PubMed: Tohyama 2008 - F - Japan - - - - - DEE1 slight psychomotor development with eye contact, no head control 1 1 LOVD
00227780 - PubMed: Mignot 2011 - F - (France) - - - - - DEE1 severe MR, nail dysplasia, sterotypes, No walking, tremor 1 1 LOVD
00227781 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - 1 1 LOVD
00227782 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - 1 1 LOVD
00227783 - PubMed: Hamdan 2009, PubMed: Hamdan 2011 - F - Canada French - - - - ID severre intellectual disability, partial complex epilepsy epilepsy, MRI normal, CT-scan normal, hypotonia 1 1 LOVD
00227784 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - 1 1 LOVD
00227785 - PubMed: Deprez 2010 - - - - white - - - - DEE1 - 1 1 LOVD
00227786 - PubMed: Saitsu 2008 - - - Japan - - - - - DEE1 - 1 1 LOVD
00227787 - PubMed: Deprez 2010 - - - - white - - - - DEE1 evolution to West syndrome 1 1 LOVD
00227788 - PubMed: Hamdan 2009, PubMed: Hamdan 2011 - F - Canada French >27y - - - ID severe intellectual disability, partial complex epilepsy, hypotonia, CT-scan normal 1 1 LOVD
00227789 - PubMed: Deprez 2010 - - - - white - - - - DEE1 evolution to West syndrome 1 1 LOVD
00227790 - PubMed: Deprez 2010 - - - - white - - - - DEE1 evolution to West syndrome 1 1 LOVD
00227791 - PubMed: Deprez 2010 - - - - white - - - - DEE1 - 1 1 LOVD
00227792 - - unaffected carrier father - - Canada French - - - - ? - 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 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 1 1 LOVD
00227795 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; no head control, no social contact, severe MR, spastic quadriplegia 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 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 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 1 1 LOVD
00227799 - PubMed: Saitsu 2010 - M - Japan - - - - - DEE1 suppression-burst; no head control, no social contact, severe MR, spastic quadriplegia 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 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 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 1 1 LOVD
00227803 - PubMed: Hamdan 2011 - M - - French Canadian - - - - ID no epilepsy; psychomotor development characterized by global delay 1 1 LOVD
00227804 - PubMed: Otsuka 2010 - M - (Japan) - - - - - DEE1 No head control, No visual attention, Hypotonia 1 1 LOVD
00227805 - PubMed: Otsuka 2010 - F - (Japan) - - - - - DEE1 suppression-burst; Poor head control, poor visual attention, poor eye pursuit, severe hypotonia 1 1 LOVD
00227806 - PubMed: Mignot 2011 - F - (France) - - - - - ? No speaking, hand stereotypies, walking with aid, smiling, incessant tremor 1 1 LOVD
00227807 - PubMed: Mignot 2011 - F - (France) - - - - - ? No speaking, tremor, right hemiparesis with extrapyramidal rigidity 1 1 LOVD
00227808 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Dyskinesia, hand stereotypes, Ataxic walking, No speech, Autistic features 1 1 LOVD
00227809 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Dyskinesia, Axial hypertonia 1 1 LOVD
00227810 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Dyskinesia, No speech, Ataxic walking, sterotypic movements, Autistic features 1 1 LOVD
00227811 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 No walk, No speech 1 1 LOVD
00227812 - PubMed: Milh 2011 - - - (France) - - - - - DEE1 Axial hypertonia, autistic features 1 1 LOVD
00244436 - - - - - (Italy) - - - - - RTT - 1 1 Silvia Russo
00248153 - - - F - - - - - - - ? EEG with burst suppression (HP:0010851); Seizures (HP:0001250) 1 1 IMGAG
00269490 - PubMed: Minardi 2020 - M no Italy - - - - - EIEE Epileptic Encephalopathy (HP:0200134), intellectual disability (HP:0001256) 1 1 Francesca Bisulli
00287096 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Macrocephaly (HP:0000256); Large for gestational age (HP:0001520); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Tremor (HP:0001337); Myopia (HP:0000545); Plagiocephaly (HP:0001357) 1 1 IMGAG
00294739 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00296535 - - - M - - - - - - - ? Abnormality of muscle physiology (HP:0011804); Muscular hypotonia (HP:0001252); Abnormality of nervous system physiology (HP:0012638); Areflexia (HP:0001284) 1 1 Andreas Laner
00303030 Pat75 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal 1 1 Johan den Dunnen
00303032 Pat77 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, temporal lobe epilepsy; age onset childhood 1 1 Johan den Dunnen
00303034 Pat79 PubMed: Helbig 2016 - - - United States - - - - - seizures Focal epilepsy, unclassified; age onset childhood 1 1 Johan den Dunnen
00303134 T22595 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE Ohtahara 1 1 Johan den Dunnen
00303135 T1266 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - - - - EE Lennox Gastaut syndrome 1 1 Johan den Dunnen
00303136 T23151 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE early onset epileptic encephalopathy 1 1 Johan den Dunnen
00303137 T23553 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303138 T23122 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE early onset epileptic encephalopathy 1 1 Johan den Dunnen
00303139 T22856 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE Ohtahara 1 1 Johan den Dunnen
00303140 T23289 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00306012 Pat43 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00306013 Pat44 PubMed: Johannesen 2020, PubMed: Moller 2019 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00306014 Pat45 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00307818 UK10K_FINDWGA5411254 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00374514 S-2673 PubMed: Ganapathy 2019 - - - India - - - - - ? Seizures since day 5 of her life and infantile spasms 1 1 Johan den Dunnen
00374515 S-3287 PubMed: Ganapathy 2019 - - - India - - - - - ? Seizures since day 5 of her life and infantile spasms 1 1 Johan den Dunnen
00374516 S-3458 PubMed: Ganapathy 2019 - - - India - - - - - ? Encephalopathy, generalized seizures since day 4of life and EEG showed multifocal spikes with burst suppression 1 1 Johan den Dunnen
00375654 Pat48 PubMed: Srivastava 2014 - - - United States - - - - - ? intellectual disability/developmental delay; ophthalmoplegia, strabismus; hypotonia, broad-based gait; MRI brain ventriculomegaly, ventricular asymmetry 1 1 Johan den Dunnen
00375662 Pat71 PubMed: Srivastava 2014 - - - United States - - - - - ? intellectual disability/developmental delay; ataxic cerebral palsy; ataxic CP, hypotonia, tremor, ataxia; MRI brain normal 1 1 Johan den Dunnen
00376335 180174 - - M no Germany - - - - - DEE4 Abnormality of the face, Ataxia, Hypotonia, Global developmental delay, Truncal ataxia, Polymicrogyria, Abnormal cortical gyration, Muscular hypotonia of the trunk, Infantile axial hypotonia, Abnormality of coordination, Neurodevelopmental delay 1 1 Andreas Laner
00377294 - - - F - - - - - - - ? Neonatal seizure (HP:0032807) 1 1 IMGAG
00415877 203468 - - M no Germany - - - - - DEE4 Hypotonia, Myotonia of the face, Periventricular white matter hyperintensities, Delayed CNS myelination, Pineal cyst, Motor delay 1 1 Andreas Laner
00419591 9103 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00427803 Pat235 PubMed: Zhou 2018 - M - China - - - - - epilepsy intellectual disability; spasms, frequency 10/d; EEG hypsarrhythmia; MRI brain normal; resistant to antiepileptic drugs 1 1 Johan den Dunnen
00427804 Pat243 PubMed: Zhou 2018 - F - China - - - - - epilepsy intellectual disability; spasms, frequency 5/d; EEG hypsarrhythmia 1 1 Johan den Dunnen
00427805 Pat115 PubMed: Zhou 2018 - F - China - - - - - epilepsy intellectual disability; spasms, frequency 5/d; EEG hypsarrhythmia; controlled to antiepileptic drugs 1 1 Johan den Dunnen
00428019 A164 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - ? - 1 1 Johan den Dunnen
00434852 CMC19 PubMed: Gostain 2020 - F - Canada - - - - - ? global developmental delay or intellectual disability, seizures, autism spectrum disorder 1 1 Johan den Dunnen
00438413 Pat132 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0000411 protruding ear; HP:0000750 delayed speech and language development; HP:0000752 hyperactivity; HP:0001249 intellectual disability; HP:0002353 eeg abnormality; HP:0012758 neurodevelopmental delay 1 1 Johan den Dunnen
00447943 Pat11 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - EIEE see paper; ..., global developmental delay, macrosomia, tremor, hypotonia; seizure types migrating focal tonic clonic, generalized tonic, myoclonic, atonic; EEG Focal spike wave discharges; MRI brain abnormal periventricular white matter T2 signal 1 1 Johan den Dunnen
00449825 - - - F - - (not applicable) white - - - - ID HP:0001317, HP:0001249, HP:0000505, HP:0000750 1 1 Marketa Wayhelova
00455818 Pat58 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
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