All individuals with variants in gene KCNQ2

116 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

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Remarks     

Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00002647 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002648 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002649 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002650 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002651 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002652 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002653 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002654 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002655 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002656 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002657 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - - - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002658 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002659 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002660 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002661 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00002662 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - F - - - - - - - BFNS1 - 1 1 Gaetan Lesca
00016321 - - - F - Italy - - 0 - - BFNS1 Neonatal generalized tonic-clonic seizures not responsive to any therapy. Seizures ceased spontaneously at the 25th day of life. 1 1 Lab Zuffardi
00016322 - - - M no Italy - - 0 - - EE diagnosis: epileptic encephalopathy and pervasive developmental disorder 1 1 Lab Zuffardi
00035985 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035986 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035987 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035988 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035989 - - - - - Germany - - 0 - - ? suspected benign familiar neonatal infantile epilepsy; other patient: suspected familiar benign newborn seizures 1 1 Andreas Laner
00035990 - - - - - Germany - - 0 - - ? benign familal neonatal seizures 1 1 Andreas Laner
00035991 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035992 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035993 - - - - - Germany - - 0 - - ? familial benign neonatal seizures 1 1 Andreas Laner
00035994 - - - - - Germany - - 0 - - ? benign familal neonatal seizures 1 1 Andreas Laner
00035995 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035996 - - - - - Germany - - 0 - - ? suspected benign familal neonatal seizures 1 1 Andreas Laner
00035997 - - - - - Germany - - 0 - - ? atypical RETT-syndrome, therapy-resistent epilepsy since the first months of life, no development 1 1 Andreas Laner
00035998 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035999 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036000 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036001 - - - - - Germany - - 0 - - ? benign newborn seizures 1 1 Andreas Laner
00036002 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036003 - - - - - Germany - - 0 - - ? neonatal seizures 1 1 Andreas Laner
00036004 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036005 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036006 - - - - - Germany - - 0 - - ? status post seizures as a newborn and in infancy, son has also seizures as a newborn 1 1 Andreas Laner
00036007 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036008 - - - - - Germany - - 0 - - ? suspected benign familal neonatal seizures 1 1 Andreas Laner
00036009 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036010 - - - - - Germany - - 0 - - ? developmental delay, cerebral seizures, sucking weakness 1 1 Andreas Laner
00036011 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036012 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036013 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050377 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? infantile encephalopathy, generalized myoclonic seizures, seizures 1 1 Johan den Dunnen
00050397 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? breathing dysregulation, intellectual disability, seizures, hypertelorism, low-set posteriorly rotated ears 1 1 Johan den Dunnen
00050551 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? aplasia/hypoplasia of the corpus callosum, infantile encephalopathy, seizures 1 1 Johan den Dunnen
00050561 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, lower limb muscle weakness, upper limb spasticity, strabismus, congenital muscular torticollis, seizures, generalized seizures, dolichocephaly, narrow forehead, epicanthus, high-arched palate, abnormality of the hair 1 1 Johan den Dunnen
00050651 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, generalized seizures, recurrent hand flapping, deeply set eye, delayed speech and language development, aggressive behavior, pain insensitivity 1 1 Johan den Dunnen
00054788 - - - - - - - - 0 - - EIEE7 - 1 10 NeuroMeGen
00054795 - - - - - - - - 0 - - BFNS1 - 1 4 NeuroMeGen
00054821 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054822 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054823 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054824 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054825 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054826 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054827 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054828 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054829 - - - - - - - - 0 - - EIEE7 - 1 1 NeuroMeGen
00054830 - - - - - - - - 0 - - BFNS1 - 1 1 NeuroMeGen
00054831 - - - - - - - - 0 - - BFNS1 - 1 1 NeuroMeGen
00054832 - - - - - - - - 0 - - BFNS1 - 1 1 NeuroMeGen
00080837 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EIEE7 Epileptic encephalopathy, early infantile, 7 (OMIM:613720) 1 1 Daniel Trujillano
00081048 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - BFNS1 Seizures, benign neonatal, 1 (OMIM:121200) 1 1 Daniel Trujillano
00111406 S_106 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - 0 - - EIEE7 Developmental delay, hypotonia, seizures during first year of life 1 1 Bernt Popp
00116805 S_101:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117004 S_544:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117056 S_63:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00176996 73214 - - F no Italy - - 0 - - EIEE - 1 1 Anaïs Begemann
00177006 71693 - - M no Switzerland - - 0 - - EE HP:0008936 HP:0002078 HP:0002066 HP:0002522 HP:0001761 HP:0000154 HP:0004533 1 1 Anaïs Begemann
00180190 29286531-Pat42 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? (Neonatal) seizures (HP:0001250), global developmental delay (HP:0001263), intellectual disability (HP:0001249), sagittal craniosynostosis (HP:0004442), bitemporal narrowing (HP:0000341), short hands (HP:0004279), tapering fingers (HP:0001182), cryptorchidism (HP:0000028). 1 1 Johan den Dunnen
00210002 - - - F - Germany - - 0 - - - HP:0007359 (Focal seizures); HP:0002197 (Generalized seizures); HP:0012638 (Abnormality of nervous system physiology) 1 1 Andreas Laner
00269907 - - - ? - - - - 0 - - ? Global developmental delay (HP:0001263); Muscular hypotonia of the trunk (HP:0008936); Poor head control (HP:0002421); Spasticity (HP:0001257); Inability to walk (HP:0002540); Abnormal visual fixation (HP:0025404); Open mouth (HP:0000194); High palate (HP:0000218); Congenital contracture (HP:0002803) 1 1 IMGAG
00292962 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292963 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292964 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00292965 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00295578 - - - F - - - - 0 - - ? Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00296850 - - - M - - - - 0 - - ? Epileptic spasms (HP:0011097); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Neurodevelopmental abnormality (HP:0012759); Abnormal muscle tone (HP:0003808) 1 1 Andreas Laner
00299688 - - - F - - - - 0 - - ? Epileptic encephalopathy (HP:0200134); Abnormality of the nervous system (HP:0000707) 1 1 Andreas Laner
00301387 - - - M - Germany - - 0 - - ? Seizures (HP:0001250); Abnormality of the nervous system (HP:0000707) 1 1 Andreas Laner
00303006 Pat51 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal 1 1 Johan den Dunnen
00303007 Pat52 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal 1 1 Johan den Dunnen
00303008 Pat53 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal 1 1 Johan den Dunnen
00303009 Pat54 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Benign Familial Neonatal Seizures; age onset neonatal 1 1 Johan den Dunnen
00303143 T24158 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - EE early onset epileptic encephalopathy 1 1 Johan den Dunnen
00303144 T23919 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - EE early onset epileptic encephalopathy/infantile spasms 1 1 Johan den Dunnen
00303149 T24019 PubMed: Carvill 2013 - - - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303150 T23039 PubMed: Carvill 2013 - - - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00306224 130 - - M - China - - - - - BFNS1 - 1 1 Sha Hong
00308768 - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - Healthy/Control - 1 1 Global Variome, with Curator vacancy
00314863 Trio10 PubMed: Zhu 2015 - M - Israel - - 0 - - ? Epileptic encephalopathy with severe intellectual disability and macrocephaly. 1 1 Johan den Dunnen
00317981 171279 - - M ? Syria - - 0 - - BFNS1 Seizure, Neonatal seizure 1 1 Andreas Laner
00325391 Pat4 PubMed: Hong 2020 - M - Taiwan - - 0 - - ? 3d-onset seizures; general tonic seizures, apnea; no speech; 3y-hypotonia 1 1 Johan den Dunnen
00325392 Pat5 PubMed: Hong 2020 - F - Taiwan - 6m 0 - - ? 3d-onset seizures; general tonic seizures; no speech; 1y-hypotonia 1 1 Johan den Dunnen
00330834 175044 - - M ? Germany - - 0 - - BFNS1 Generalized-onset seizure, Complex, pronounced epilepsy, generalised, therapy with VPA and LMT in high doses, now seizure-free for 3 months 1 1 Andreas Laner
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