All individuals with variants in gene SCN2A

89 entries on 1 page. Showing entries 1 - 89.
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00016326 - - Diagnosis: Febrile seizures F no Italy - - - - - ? familial febrile seizures 1 1 Lab Zuffardi
00050434 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - 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) - - - Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00050473 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - 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) - - - 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) - - - 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) - - - 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) - - - Decipher - ? absence seizures 1 2 Johan den Dunnen
00050685 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - 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) - - - 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) - - - Decipher - ? global developmental delay, progressive microcephaly, seizures, edema, thin corpus callosum 1 1 Johan den Dunnen
00081086 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - DEE11 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 - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116888 S_276:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 2 1 Dheeraj Bobbili
00116967 S_47:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117019 S_569:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - 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 - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00154969 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249) 1 1 IMGAG
00163745 - - - M - (Germany) - - - - - ? Generalized-onset seizure (HP:0002197); Global developmental delay (HP:0001263); Autistic behavior (HP:0000729) 1 1 IMGAG
00177012 42680 PubMed: Papuc 2019, PubMed: Begemann 2019 2-generation family, 1 affected, unaffected non-carrier parents M no Switzerland - - - - - EE no pre-/perinatal anomalies; birth 41w1d, weight 4120 g, length 51 cm; severe intellectual disability (HP:0001249); normal behavior; developmental delay; no sit, no walk; no speech; 3d-seizures, myoclonic seizures, tonic seizures, 1-7 seizures/day pharmacoresistant, no acquired microcephaly; spasticity, bilateral contractures knees; high narrow palate (HP:0002705); cortical visual impairment, gastro-jejunal tube; EEG-frontocentral spike-wave activity sides, burst suppression; 4d-MRI normal; 44y-MRI generalized supra- and infratentorial atrophy, bilateral hippocampal atrophy, left-sided hippocampal sclerosis, atrophy orpus callosum 1 1 Anaïs Begemann
00183050 23033978-Trio22 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00206812 - - - F - - - - - - - ? 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 - - - - - - - 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 - - - - - EE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00274178 Pat47 PubMed: Pronicka 2016 no family history M - Poland - - - - - ? mitochondrial disease criteria score 2 1 1 Johan den Dunnen
00292308 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00292309 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292310 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00292311 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295172 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00301259 - PubMed: Minardi 2020 - M - - - - - - - EE - 1 1 Francesca Bisulli
00301383 - - - F - Germany - - - - - ? Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00301660 - - - M - (Germany) - - - - - ? Epileptic encephalopathy (HP:0200134); Seizures (HP:0001250) 1 1 IMGAG
00303051 Pat96 PubMed: Helbig 2016 - - - United States - - - - - 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 - - - - - 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 - - - - - - - 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 - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303121 T22816 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents F - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303122 T20340 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE Lennox Gastaut syndrome 1 1 Johan den Dunnen
00303123 T24127 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00306222 127 - - F - China - - - - - BFIS3 - 1 1 Sha Hong
00307765 UK10K_FINDWGA5410774 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307766 UK10K_FINDWGA5410691 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00325394 Pat7 PubMed: Hong 2020 - M - Taiwan - - - - - ? no seizures;severe autism; 4y-no speech 1 1 Johan den Dunnen
00372758 179030 - - F ? Germany - - - - - 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 - - - - - ? Global developmental delay, intermittent ataxia, seizures and autistic features 1 1 Johan den Dunnen
00374627 S-334 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374837 S-987 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374838 S-4029 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00374839 S-926 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00375663 Pat72 PubMed: Srivastava 2014 - - - United States - - - - - ? seizures; MRI brain normal 1 1 Johan den Dunnen
00377136 181230 - - M no Germany - - - - - EA Ataxia, Episodic ataxia, Abnormality of coordination 1 1 Andreas Laner
00380939 185035 - - M no Germany - - - - - DEE11 Bilateral tonic-clonic seizure, Neonatal seizure, Neonatal epileptic spasm 1 1 Andreas Laner
00412366 Fam10 PubMed: Halvardson 2016 - M - Sweden - - - - - NDD mild intellectual disability, autism, epilepsy, delayed speech development 1 1 Johan den Dunnen
00416235 Pat4 PubMed: Fregeau 2016 2 generation family, 1 affected, unaffected non carrier parents F - - Europe - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; behavioral problems; no spastic quadriparesis; no ttention deficit hyperactivity disorder; no feeding/swallowing problems; thin corpus callosum; diminished white matter volume; abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; no small anterior commissure; no delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; no cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; vesicoureteral reflux; no cystic kidney; no syndactyly; hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); no short stature (≤2nd centile); no macrocephaly (≥98th centile); no microcephaly (≤2nd centile); no third fontanel; no frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; no down-slanting palpebral fissures; no small palpebral fissures; epicanthal folds; deeply set eyes; no blepharaophymosis; abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; no small mouth; furrowed tongue; no abnormal teeth; no broad alveolar ridges; no high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; digital anomalies; no nail hypoplasia; abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots 1 1 Johan den Dunnen
00416926 1578 PubMed: Tzialla 2022 - M no (Italy) Caucasian - - - - DEE11 Macrocephaly HP:0000256 Ventriculomegaly HP:0002119 Supraventricular tachycardia HP:0004755 Cardiomegaly HP:0001640 Decreased body weight HP:0004325 Simplified gyral pattern HP:0009879 Low-set ears HP:0000369 Blepharophimosis HP:0000581 Epicanthus HP:0000286 Hypertelorism HP:0000316 Retrognathia HP:0000278 Hypotonia HP:0001252 Seizure HP:0001250 Fever HP:0001945 Hyponatremia HP:0002902 Hypoglycemia HP:0001943 Anemia HP:0001903 1 1 Edoardo Errichiello
00418717 Fam19 Journal: Hiatt 2022, PubMed: Hiatt 2023, Journal: Hiatt 2023 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - NDD speech delay; motor delay; no behavioral problems; facial dysmorphism; no genitourinary anomalies 1 1 Johan den Dunnen
00424614 159736 - - F ? - - - - - - DEE11 Dystonia, Intellectual disability, mild, Ventricular septal defect, Lower limb spasticity, Aganglionosis of the small intestine, Arm dystonia 1 1 Andreas Laner
00427796 Pat150 PubMed: Zhou 2018 - F - China - - - - - epilepsy intellectual disability; complex partial seizure, generalized tonic-clonic, frequency 3/d; EEG multifocal discharges; MRI brain L temporal lobe atrophy?; controlled to antiepileptic drugs 1 1 Johan den Dunnen
00428060 208447 - - M no Germany - - - - - DEE11 Focal tonic seizure, Neurodevelopmental delay 1 1 Andreas Laner
00436412 269208 - - M no Germany - - - - - DEE11 Severe global developmental delay, Microcephaly, Hypertelorism, Long palpebral fissure 1 1 Andreas Laner
00438298 Pat16 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0025356 pschomotor retardation 1 1 Johan den Dunnen
00438307 Pat25 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0001249 intellectual disability; HP:0001252 muscular hypotonia 1 1 Johan den Dunnen
00438345 Pat63 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0040187 neonatal sepsis; HP:0002090 pneumonia; HP:0002878 respiratory failure; HP:0003073 hypoalbuminemia; HP:0001903 anemia; HP:0002133 status epilepticus; HP:0012448 delayed myelination 1 1 Johan den Dunnen
00438378 Pat97 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0000952 jaundice; HP:0003808 abnormal muscle tone 1 1 Johan den Dunnen
00438416 Pat135 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0003593 infantile onset; HP:0002333 motor deterioration; HP:0002187 intellectual disability, profound; HP:0010862 delayed fine motor development; HP:0012434 delayed social development; HP:0000733 stereotypic behavior; HP:0000957 cafe-au-lait spot; HP:0012704 widened subarachnoid space 1 1 Johan den Dunnen
00438614 HSC0087 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00438648 HSJ0243 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00438667 HSJ0570 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00447940 Pat8 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - EIEE see paper; ..., global developmental delay, hypotonia, cerebral palsy, postnatal microcephaly; seizure types generalized tonic clonic, focal tonic; EEG Discontinuous, multifocal spike wave; MRI brain normal 1 1 Johan den Dunnen
00449556 - - - M no - white - - - - autism HP:0000256, HP:0000717, HP:0001000, HP:0001249, HP:0001256, HP:0002342, HP:0002533, HP:0003502, HP:0005585, HP:0006889 1 1 Marketa Wayhelova
00455768 Pat8 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
00455847 Pat87 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00455848 Pat88 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00458040 - - - M - - (not applicable) white - - - - NDD HP:0002342, HP:0000717, HP:0001263, HP:0004692 1 1 Marketa Wayhelova
00458097 - - - F - - (not applicable) white - - - - NDD HP:0000717, HP:0002342, HP:0001250 1 1 Marketa Wayhelova
00465814 331736 - - F - Germany - - - - - DEE11 Neurodevelopmental delay, Motor delay, Gait ataxia, Absent speech, EEG abnormality, Neurodegeneration 1 1 Andreas Laner
00467305 CMH629 PubMed: Soden 2014 family, 1 affected - - United States - - - - - ? - 1 1 Johan den Dunnen
00467310 CMH680 PubMed: Soden 2014 family, 1 affected - - United States - - - - - ? - 1 1 Johan den Dunnen
00469325 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469326 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469327 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469328 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469329 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469330 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469331 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00469332 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00471724 Pat10 PubMed: Anderson 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., normal pregnancy; birth 34+5w; neonatal NICU 12d for prematurity; birth weight 2300g (P60, 0.3 SD); length 163cm (P66, 0.4 SD), weight 49.3kg (P54, 0.1 SD), OFC 54.5cm (P67, 0.4 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; no microcephaly; ADHD-hyperactive type, sensory and auditory processing disorder; no autism; 6m-sit; 12m-walk; early social smile; 9m-speech mama dada, 3y-difficult to understand speech, 13y6m- challenges with social pragmatics and mild expressive language issues; 9y-generalized seizure; EEG frequent runs of 2-2.5Hz generalized spike-wave discharges lasting from 6-60 seconds, sometimes punctuated by brief, lower amplitude theta activity were seen during periods of wakefulness, drowsiness, and stage I/II sleep; MRI brain normal; normal coordination; normal muscle tone; no dysmorphic features; normal cranial morphology; no gastrointestinal abnormalities, no feeding difficulties; no hearing loss; no ophthalmologic abnormalities; no nystagmus; normal cardiovascular system; normal spine morphology; history of severe asthma now under good control 1 1 Johan den Dunnen
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