All individuals with variants in gene SCN2A

54 entries on 1 page. Showing entries 1 - 54.
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00016326 - - Diagnosis: Febrile seizures F no Italy - - 0 - - ? familial febrile seizures 1 1 Lab Zuffardi
00050434 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? seizures, gastroesophageal reflux, global developmental delay 1 1 Johan den Dunnen
00050464 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00050473 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? generalized myoclonic seizures, generalized tonic-clonic seizures, developmental regression, postnatal microcephaly, supernumerary nipples, brachycephaly, small feet, intellectual disability profound 1 1 Johan den Dunnen
00050562 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? progressive microcephaly, intellectual disability profound, infantile encephalopathy, optic atrophy, generalized myoclonic seizures, generalized tonic-clonic seizures, spasticity, cerebral atrophy, unerupted tooth 1 1 Johan den Dunnen
00050596 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, autism, sleep-wake cycle disturbance, generalized neonatal hypotonia, generalized hirsutism, urinary incontinence, anterior creases of earlobe, 2-3 toe syndactyly 1 1 Johan den Dunnen
00050597 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? postnatal microcephaly, seizures, autism spectrum disorder, bruxism, stereotypic behavior, delayed speech and language development, short palm, small feet 1 1 Johan den Dunnen
00050603 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - 0 Decipher - ? absence seizures 1 2 Johan den Dunnen
00050685 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? constipation, global developmental delay, abnormality of the eyebrow 1 1 Johan den Dunnen
00050696 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, autism, joint hypermobility, cryptorchidism, hyperextensibility of the knee, hyperextensibility at elbow, broad forehead, deeply set eye, anteverted nares, thin upper lip vermilion, widely spaced teeth, sandal gap 1 1 Johan den Dunnen
00050701 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - ? global developmental delay, progressive microcephaly, seizures, edema, thin corpus callosum 1 1 Johan den Dunnen
00081086 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EIEE-11 Epileptic encephalopathy, early infantile, 11 (OMIM:613721) 1 1 Daniel Trujillano
00102087 P15 - - F no China - >05y - - - ID - 1 1 Wenjuan Qiu
00116874 S_243:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116888 S_276:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 2 1 Dheeraj Bobbili
00116967 S_47:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117019 S_569:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117102 S_732:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00154969 - - - M - (Germany) - - 0 - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249) 1 1 IMGAG
00163745 - - - M - (Germany) - - 0 - - ? Generalized-onset seizure (HP:0002197); Global developmental delay (HP:0001263); Autistic behavior (HP:0000729) 1 1 IMGAG
00177012 42680 - - M no Switzerland - - 0 - - EE HP:0002705 1 1 Anaïs Begemann
00183050 23033978-Trio22 PubMed: de Ligt 2012 - F - Netherlands - - 0 - - ID see paper; … 1 1 Johan den Dunnen
00206812 - - - F - - - - 0 - - ? Epileptic encephalopathy (HP:0200134); Microcephaly (HP:0000252); Generalized hypotonia (HP:0001290) 1 1 IMGAG
00261174 Fam8 Journal: Fischer-Zirnsak 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - 0 - - DD developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); abnormal corpus callosum (HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); strabism, exotropia, sleep apnea; deep set eyes, long stright nose, flat malar, self-stimulating behavior 1 1 Johan den Dunnen
00269533 - PubMed: Minardi 2020 - M - Italy - - 0 - - EE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00274178 Pat47 PubMed: Pronicka 2016 no family history M - Poland - - 0 - - ? mitochondrial disease criteria score 2 1 1 Johan den Dunnen
00292308 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 3 Mohammed Faruq
00292309 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292310 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292311 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00295172 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00301259 - PubMed: Minardi 2020 - M - - - - - - - EE - 1 1 Francesca Bisulli
00301383 - - - F - Germany - - 0 - - ? Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00301660 - - - M - (Germany) - - 0 - - ? Epileptic encephalopathy (HP:0200134); Seizures (HP:0001250) 1 1 IMGAG
00303051 Pat96 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset/Migrating Partial Seizures of Infancy; age onset neonatal 1 1 Johan den Dunnen
00303053 Pat98 PubMed: Helbig 2016 - - - United States - - 0 - - seizures Epileptic encephalopathy, neonatal onset; age onset neonatal 1 1 Johan den Dunnen
00303119 T20632 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents M - - - - 0 - - EE early onset epileptic encephalopathy evolving to infantile spasms 1 1 Johan den Dunnen
00303120 T21005 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303121 T22816 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents F - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303122 T20340 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - EE Lennox Gastaut syndrome 1 1 Johan den Dunnen
00303123 T24127 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00306222 127 - - F - China - - - - - BFIS-3 - 1 1 Sha Hong
00307765 UK10K_FINDWGA5410774 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00307766 UK10K_FINDWGA5410691 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - 0 - - ID - 1 1 Johan den Dunnen
00325394 Pat7 PubMed: Hong 2020 - M - Taiwan - - 0 - - ? no seizures;severe autism; 4y-no speech 1 1 Johan den Dunnen
00372758 179030 - - F ? Germany - - 0 - - EA For decades, secondary seizures with visual disturbance, gait disturbance, tendency to fall and sensory disturbances, cramps 1 1 Andreas Laner
00374477 S-1722 PubMed: Ganapathy 2019 - - - India - - 0 - - ? Global developmental delay, intermittent ataxia, seizures and autistic features 1 1 Johan den Dunnen
00374627 S-334 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374837 S-987 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374838 S-4029 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374839 S-926 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00375663 Pat72 PubMed: Srivastava 2014 - - - United States - - 0 - - ? seizures; MRI brain normal 1 1 Johan den Dunnen
00377136 181230 - - M no Germany - - 0 - - EA Ataxia, Episodic ataxia, Abnormality of coordination 1 1 Andreas Laner
00380939 185035 - - M no Germany - - 0 - - EIEE-11 Bilateral tonic-clonic seizure, Neonatal seizure, Neonatal epileptic spasm 1 1 Andreas Laner
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