Disease #06906 (DEE (encephalopathy, developmental and epileptic))

Official abbreviation DEE
Name encephalopathy, developmental and epileptic
OMIM ID -
Inheritance -
Individuals reported having this disease 269
Phenotype entries for this disease 272
Associated with 13 genes ATP1A3, CELF2, DALRD3, DNM1, GAD1, GLUL, GNAO1, KCNA2, KCNH5, MDGA2, NEUROD2, NTRK2, TMEM63B
Associated tissues -
Disease features -
Remarks -
Date created 2022-04-07 09:24:23 +02:00 (CEST)
Date last edited N/A


Individuals

269 entries on 3 pages. Showing entries 1 - 100.
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00412354 patient PubMed: Lu 2021 - F - China - - - - - DEE see paper; ..., no microcephaly; developmental delay; infantile spasms, did not respond to vigabatrin, corticosteroids or adrenocorticotrophic hormone; hypotonia; norml vision; no GI dysmotility/feeding problems; intrauterine growth restriction; MRI brain normal; Hypsarrhythmia - HECW2 1 1 Johan den Dunnen
00412356 - PubMed: Hamdan 2017 - - - Canada - - - - - DEE see paper; ..., intellectual disability; developmental delay; epilepsy - HECW2 1 1 Johan den Dunnen
00412962 Pat1 PubMed: Nakamura 2013 - F - Japan - - - - refractory response to epilepsy treatment DEE 4d-tonic seizure; 4d-suppression-burst pattern; 5y-tonic seizure; EEG-1y4m-multifocal sharp waves, 5y6m-suppression-burst pattern; no involuntary movement; seizure control intractable (2-3 times per day); no head control; not sitting; no speech; MRI 1m-normal, 5y6m-cerebral atrophy - GNAO1 1 1 Johan den Dunnen
00412963 Pat2 PubMed: Nakamura 2013 - F - Japan - - - - refractory response to epilepsy treatment DEE 29d-series of tonic seizures (tonic upgaze, head nodding, extension of all extremities); 29d-suppression-burst pattern; 9m-series of tonic seizures; EEG 3m-hypsarrhythmia, 1y7m-diffuse spike-and-slow-wave complex, 3y9m-sharp waves at frontal lobe; no involuntary movement; seizure control intractable (0-2 times per day); head control; not sitting; no speech; MRI 10m-delayed myelination, thin corpus callosum - GNAO1 1 1 Johan den Dunnen
00412964 Pat3 PubMed: Nakamura 2013 - F - Japan - 00y11m - - refractory response to epilepsy treatment DEE 2w-series of tonic seizures (resemble spasms); 2w-suppression-burst pattern; 10m-tonic seizure; EEG 4m-hypsarrhythmia; dystonia; seizure control intractable; no head control; not sitting; no speech; MRI 3m-normal - GNAO1 1 1 Johan den Dunnen
00412965 Pat4 PubMed: Nakamura 2013 - F - Japan - - - - refractory response to epilepsy treatment DEE 7m-opisthotonic posture, developmental delay; 5y-diffuse irregular spike-and-slow-wave complex; 5y-focal seizure (tonic upgaze), tonic seizure; severe chorea, athetosis; seizure control intractabl (several times per day); no head control; not sitting; no speech; MRI 1y3m-delayed myelination, 4y8m-reduced cerebral white matter, thin corpus callosum - GNAO1 1 1 Johan den Dunnen
00413206 Patient 2 - - F no China - - - - - DEE - KCNC2 KCNC2 1 1 Ke Xu
00413207 Patient 1 - - M no China - - - - - DEE - KCNC2 KCNC2 1 1 Ke Xu
00426049 Pat1 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, generalized epilepsy, epileptic spasms, myoclonic seizures, subclinical seizures, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia, multifocal SW, poorly organized background; MRI brain markedly decreased cerebral volume, deficiency of white matter, small brainstem and corpus callosum - DNM1 1 1 Johan den Dunnen
00426050 Pat2 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, combined epilepsy, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, significant irritability; EEG history hypsarrhythmia, multifocal SW, poorly organized background, excessive discontinuity; MRI brain 1y-normal - DNM1 1 1 Johan den Dunnen
00426051 Pat3 PubMed: Parthasarathy 2022 - F - - - - - - - DEE 2m15d-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; ; ; profound hypotonia, cortical visual impairment - DNM1 1 1 Johan den Dunnen
00426052 Pat4 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 6m-onset seizures, epileptic spasms, focal epilepsy, refractory initially, now seizure free; severe developmental delay, GMFCS V, CFCS IV; profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia; MRI brain hypoplasia of corpus callosum and enlarged ventricles - DNM1 1 1 Johan den Dunnen
00426053 Pat5 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal - DNM1 1 1 Johan den Dunnen
00426054 Pat6 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal - DNM1 1 1 Johan den Dunnen
00426055 Pat7 PubMed: Parthasarathy 2022 - F - - - - - - - DEE 2m-onset seizures, myoclonic seizures, refractory; profound developmental delay, GMFCS V, CFCS V; profound hypotonia with peripheral spasticity; ; MRI brain normal - DNM1 1 1 Johan den Dunnen
00426056 Pat8 PubMed: Parthasarathy 2022 - M - - - 2y8m - - - DEE 32m-deceased; 3m-onset seizures, myoclonic seizures, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG asynchrony, electroclinical myoclonic seizures; MRI brain diffuse cerebral atrophy - DNM1 1 1 Johan den Dunnen
00426057 Pat9 PubMed: Parthasarathy 2022 - F - - - - - - - DEE 6m-onset seizures, no clinical seizures; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus; EEG history hypsarrhythmia, mild background slowing, focal spikes and polyspikes; MRI brain abnormal diffusion restriction attributed to vigabatrin toxicity, delayed myelination, mild enlargement of ventricles, small corpus callosum - DNM1 1 1 Johan den Dunnen
00426058 Pat10 PubMed: Parthasarathy 2022 - M - - - 10m - - - DEE 10m-deceased; 3m-onset seizures, epileptic spasms, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; hyperkinetic dystonic movement disorder, profound hypotonia, cortical visual impairment; ; EEG hypsarrhythmia - DNM1 1 1 Johan den Dunnen
00426059 Pat11 PubMed: Parthasarathy 2022 - F - - - - - - - DEE no seizures; mild developmental delay, GMFCS I, CFCS I, MACS II; mild hypotonia, behavioral problems; EEG moderate increase in beta frequencies; MRI brain 5y-normal - DNM1 1 1 Johan den Dunnen
00427686 patient PubMed: Harms 2023 2-generation family, 1 affected, unaffected non carrier parents M no Germany white - - - - DEE see paper; ..., pregnancy uneventful; birth-42w, weight 3480g (− 0.28 z), length 54cm (0.75 z), OFC 36cm (0.55 z), first days breastfeeding difficult, bottle no problems; neonatal hypotonic, easily startled; 4w-twitching right leg, more frequent crying; 6w-prolonged seizure, hospital administration, no dysmorphic features; EEG immature irregular activity with multifocal/generalized epileptic discharges; MRI brain right choroidal fissure cyst;patent foramen ovale; >6w-frequent seizures (>100/day, myoclonic jerks, tonic clonic seizures, tonic seizures); 2y-normal growth, therapy-resistant epilepsy, no motor developmental milestones, no cognitive developmental milestones, severely hypotonic, no head control, subtle movements feet, no motor activity, no roll/crawl/sit/walk, no reaction visual/auditory stimuli, rare responses to tactile stimuli, gaze did not fix on objects, no speech development, frequent vomiting DNM1 DNM1 1 1 Frederike Leonie Harms
00428280 210762 - - M yes Lebanon - - - - - DEE delayed speech and language development, Global developmental delay SZT2 SZT2 1 1 Andreas Laner
00433664 family - family with multiple affected individuals - - - - - - - - DEE intellectual disability, speech delay, hyperactivity, EEG abnormality - GABRB2 1 2 Marketa Wayhelova
00433665 - - - - - - - - - - - DEE mild intellectual disability, autism, speech delay, hyperactivity - CUX2 1 1 Marketa Wayhelova
00435366 Pat6 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents M - Poland - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435367 Pat7 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents - - Spain - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435368 Pat8 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents M - Macedonia - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435369 Pat9 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents F - United States - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435370 Pat10 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents F - Egypt - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435371 Pat14 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents M - Nepal - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435372 Pat22 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents F - Saudi Arabia - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435373 Pat23 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents F - Saudi Arabia - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435374 Pat28 PubMed: Scala 2022, Journal: Scala 2022 2-generation family, 1 affected, unaffected heterozygous parents F - Saudi Arabia - - - - - DEE see paper; ... ITPA ITPA 1 1 Johan den Dunnen
00435639 Pat1 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - 9y - - - DEE see paper, ..., 9y-deceased (pneumonia); 6m-mild anaemia, mildly increased platelets count, stable on yearly full blood count; osmotic fragility test; negative; 6m-/infantile spasms; spasms, myoclonic seizures, focal seizures with impaired awareness (daily); EEG 6m–8y slow background, bilateral independent discharges, epileptic spasms and myoclonic seizures; MRI brain 5m, 4y thin corpus callosum, colpocephaly, abnormal myelination, dysmorphic lateral ventricles, enlarged extracerebral spaces, progressive mild cerebellar atrophy, and watershed areas white matter abnormality; threatened preterm labor at 35w, global profound developmental delay, generalized hypotonia, plagiocephaly, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 17m), dyskinesias; mild anemia - TMEM63B 1 1 Johan den Dunnen
00435640 Pat2 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 1d-focal seizures; bilateral independent focal motor seizures with impaired awareness, focal to bilateral tonic-clonic (weekly); EEG 7−10y slow background, multifocal discharges, focal seizures recorded; MRI brain 6y, 10y thin corpus callosum, multifocal white matter abnormalities, ventricular asymmetry, progressive cerebellar atrophy; global profound developmental delay, ataxic gait, lower limb hypertonia, nystagmus; mild abnormalities of red blood cells, mean corpuscular hemoglobin, mean corpuscular volume - TMEM63B 1 1 Johan den Dunnen
00435641 Pat3 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 2m-focal motor seizures with asymmetric posturing; focal seizures with impaired awareness and asymmetric posturing, focal to bilateral tonic-clonic (weekly); EEG 15y slow background, focal epileptiform discharges; MRI brain 4y thin corpus callosum, posterior predominant multifocal white matter abnormalities, dysmorphic asymmetric lateral ventricles, enlarged cortical sulci; global profound developmental delay, spastic asymmetric quadriparesis, severe cortical visual impairment - TMEM63B 1 1 Johan den Dunnen
00435642 Pat4 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - 12y6m - - - DEE see paper, ..., 12y6m-deceased (pneumonia); 4m-focal seizures; focal seizures with impaired awareness; 9 months on: spasms and focal to bilateral tonic-clonic (daily); 14m-single episode of status epilepticus; EEG 8m–10y slow background, bilateral independent or multifocal discharges, epileptic spasms recorded; MRI brain 5m, 7y thin corpus callosum, multifocal white matter abnormalities, dysmorphic enlarged lateral ventricles, mild cortical and cerebellar atrophy, progressive trabecular bone thickening; global profound developmental delay, wheelchair bound, cortical visual impairment, by 10y knee fixed flexion contractures, dysphagia (percutaneous endoscopic gastrostomy 5y); severe macrocytic anemia transfusion dependent - TMEM63B 1 1 Johan den Dunnen
00435643 Pat5 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 1d-jaundice; laryngomalacia (1y-supraglottoplasty) ; 2d-apnoeic seizures; 4m-epileptic spasms, 7y-focal hyperkinetic motor seizures with impaired awareness (seizure-free); EEG 7y slow background, bilateral independent or multifocal discharges, focal seizures recorded; MRI brain 1 week, 7m, 2y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive posteriorly predominant white matter abnormality, and cerebellar atrophy; global profound developmental delay, severe cortical visual impairment, nystagmus, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 2y); jaundice at birth - TMEM63B 1 1 Johan den Dunnen
00435644 Pat6 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 10d-apnoeic seizures; focal seizures onset with impaired awareness, focal to bilateral tonic-clonic, epileptic spasms (daily); EEG 2m–23m slow background, multifocal or generalized discharges with burst suppression, focal seizures recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, diffusely abnormal myelination; global profound developmental delay, quadriparesis with generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (percutaneous endoscopic gastrostomy 16m); macrocytic anemia, transfusion dependent - TMEM63B 1 1 Johan den Dunnen
00435645 Pat7 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 12m scleralicterus; 1d-apnoeic seizures; 14d-stiffening episodes, 9m-epileptic spasms (seizure-free); EEG birth–20m normal background, then hypsarrhythmia, slow background, focal discharges; MRI brain 1 week, 5m, 11m thin corpus callosum, widespread white matter abnormalities, enlarged dysmorphic lateral ventricles, mild progressive cerebellar atrophy; global profound developmental delay, asymmetric quadriparesis, generalized hypotonia, cortical visual impairment, nystagmus, dysphagia (no percutaneous endoscopic gastrostomy yet); scleralicterus - TMEM63B 1 1 Johan den Dunnen
00435646 Pat8 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 2y-severe anaemia, occasional transfusions, episode of haemolysis triggered by infection8y-BM showed myelodysplastic syndrome with aplastic anaemia, haematopoiesis, chronic haemolysi; 4m-infantile spasms; 1y-generalized tonic seizures, focal motor with impaired awareness (daily); EEG 4m–12y hypsarrhythmia, then slow background, multifocal epileptiform discharges; MRI brain 4m, 2y, 10y thin corpus callosum, abnormal myelination, dysmorphic asymmetric lateral ventricles, enlarged extracerebral spaces, progressive widespread white matter abnormality, ventricular dilatation, cerebellar atrophy, and trabecular bone thickening; global profound developmental delay, quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe anemia requiring occasional transfusions - TMEM63B 1 1 Johan den Dunnen
00435647 Pat9 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 2y-mild stable anaemia (no previous measurement available); retinal dystrophy; 2y6m-focal seizures; 3y-epileptic spasms in small clusters (weekly); EEG slow background, no epileptiform discharges in 4 EEG recordings; MRI brain 4m thin corpus callosum with absent splenium and delayed myelination, 6y 7m increased signal of white matter in watershed areas, generalized decrease of white matter volume; global profound developmental delay, wheelchair bound, quadriparesis, pseudobulbar signs, jerky involuntary movements, stereotypical movements and behavior, dysphagia (percutaneous endoscopic gastrostomy 3y), cortical visual impairment, nystagmus; mild anemia - TMEM63B 1 1 Johan den Dunnen
00435648 Pat10 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 14d-focal seizures; bilateral independent focal seizures, epileptic spasms (daily); EEG 2–9m slow background, hypsarrhythmia, multifocal discharges, focal seizures and epileptic spasms recorded; MRI brain 2m thin corpus callosum, enlarged extracerebral spaces, abnormal myelination more pronounced posteriorly, Rathke cleft cyst; global profound developmental delay, quadriparesis, generalized hypotonia, cortical blindness with roving eye movements, dysphagia; mild macrocytic anemia - TMEM63B 1 1 Johan den Dunnen
00435649 Pat11 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 2y-focal seizures; occasional focal seizures with impaired awareness during fever; EEG 4–6y normal background, bilateral independent discharges; MRI brain 6y multifocal, posteriorly predominant white matter abnormality; global severe developmental delay, motor impairment, generalized hypotonia - TMEM63B 1 1 Johan den Dunnen
00435650 Pat12 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 7d-myoclonic jerks; 14m-intractable focal seizures; EEG 14m: normal background, generalized and focal discharges; MRI brain 14m mild prominence of ventricular system and extra-axial CSF spaces; global developmental delay, dysphagia - TMEM63B 1 1 Johan den Dunnen
00435651 Pat13 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ...,f rom birth severe haemolytic anaemia with macrocytosis, thrombocytopenia, hepatosplenomegaly, transfusion dependent, hyperbilirubinemia, left vesicoureteral reflux (13y-surgical correction), chronic urinary retention; 6m-infantile spasms; tonic seizures daily; generalized tonic-clonic seizures (monthly); EEG 4m–16y hypsarrhythmia, then slow background, bilateral independent or multifocal discharges, epileptic spasms and tonic seizures recorded; MRI brain 7m, 2y, 4y, 8y thin corpus callosum, multifocal white matter abnormalities, asymmetric dysmorphic lateral ventricles, progressive trabecular bone thickening; global profound developmental delay, generalized hypotonia, microcephaly, visual impairment, nystagmus, squint, spastic quadriparesis, dysphagia (percutaneous endoscopic gastrostomy 12y); severe hemolytic anemia, transfusion dependent - TMEM63B 1 1 Johan den Dunnen
00435652 Pat14 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 10m-focal seizures; generalized tonic-clonic seizures occasional during fever; EEG 2y slow background, focal discharges; MRI brain 1 year 7m thin corpus callosum, widespread white matter abnormality, especially periventricular, asymmetric dysmorphic lateral ventricles, mild cerebellar atrophy; global profound developmental delay, spastic quadriparesis, axial hypotonia, upper limb dystonia, visual impairment, dysphagia (percutaneous endoscopic gastrostomy 3y) - TMEM63B 1 1 Johan den Dunnen
00435653 Pat15 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 3y-focal seizures; focal seizures with impaired awareness, generalized tonic-clonic seizures (yearly; EEG 15y slow background, focal discharges, focal seizures recorded; MRI brain 15y, 21y, 24y, 27y, 28y thin corpus callosum, widespread white matter abnormality, especially periventricular/posterior, progressive cerebellar atrophy, and trabecular bone thickening; global moderate developmental delay, cerebellar ataxia, tremor, dysarthria, limited mobility, bipolar disorder; mild hyperbilirubinemia - TMEM63B 1 1 Johan den Dunnen
00435654 Pat16 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - DEE see paper; ..., 1d-mild jaundice, macrocytic anaemia, out-turned feet; 11m-focal seizures; focal seizures with posturing and impaired awareness, recurrent status epilepticus (yearly); EEG 17m–22y background mildly abnormal, diffuse beta activity, multifocal discharges, focal seizures recorded; MRI brain 1 year, 2y, 10y thin corpus callosum, multifocal white matter abnormality; global moderate developmental delay, spastic quadriparesis, autism spectrum disorder; macrocytic anemia - TMEM63B 1 1 Johan den Dunnen
00435655 Pat17 PubMed: Vetro 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - DEE see paper; ..., 11m-focal seizures; focal seizures with eye deviation; jerking, generalized tonic-clonic seizures, recurrent status epilepticus (seizure-free) at last FU; EEG 5–17m normal background, focal discharges; MRI brain 1 year, 12y thin corpus callosum, abnormal myelination, colpocephaly, dysmorphic lateral ventricles, increased white matter signal with posterior/periventricular predominance; global, severe developmental delay, toe walking, autism spectrum disorder - TMEM63B 1 1 Johan den Dunnen
00438564 HSC0002 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ABCA1 1 1 Johan den Dunnen
00438565 HSC0006 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - IQSEC2, SMC3, SUDS3 3 1 Johan den Dunnen
00438566 HSC0009 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - COL14A1, JARID2, PDS5A, ZC3H13 4 1 Johan den Dunnen
00438567 HSC0011 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SIGLEC1 1 1 Johan den Dunnen
00438568 HSC0012 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - EPX, SCN1A, SLC22A11 3 1 Johan den Dunnen
00438569 HSC0014 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SEPT8 1 1 Johan den Dunnen
00438570 HSC0016 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ADAMTSL1, ANKRD34A, C1QB, CACNA1A, POLR3GL, SLC35C1 5 1 Johan den Dunnen
00438571 HSC0017 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - KLHL31, SCN8A 2 1 Johan den Dunnen
00438572 HSC0020 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - CLK2, HIVEP2, PRAM1 3 1 Johan den Dunnen
00438573 HSC0021 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - VTA1 1 1 Johan den Dunnen
00438574 HSC0022 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - AP1B1, KCP, MAP1S 4 1 Johan den Dunnen
00438575 HSC0023 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - C6orf118 1 1 Johan den Dunnen
00438576 HSC0024 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ANKRD11 1 1 Johan den Dunnen
00438577 HSC0025 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SCN1A, TBPL2 2 1 Johan den Dunnen
00438578 HSC0026 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - KIF26A, SPATS2 2 1 Johan den Dunnen
00438579 HSC0027 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - DEGS1 1 1 Johan den Dunnen
00438580 HSC0028 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - GYS2, RAB37 2 1 Johan den Dunnen
00438581 HSC0029 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - GRM4 1 1 Johan den Dunnen
00438582 HSC0031 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - KBTBD2 1 1 Johan den Dunnen
00438583 HSC0032 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - RYR2 1 1 Johan den Dunnen
00438584 HSC0033 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SCRIB 1 1 Johan den Dunnen
00438585 HSC0034 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ZNF718 1 1 Johan den Dunnen
00438586 HSC0035 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - BCL11A, CLPX, ERI2, HHEX, PEX13, USP34 4 1 Johan den Dunnen
00438587 HSC0036 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - CDO1, DSG4, NALCN 3 1 Johan den Dunnen
00438588 HSC0037 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - CHFR, ELN 2 1 Johan den Dunnen
00438589 HSC0038 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - MUL1 1 1 Johan den Dunnen
00438590 HSC0039 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SERPINB12 1 1 Johan den Dunnen
00438591 HSC0040 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ASTN2 1 1 Johan den Dunnen
00438592 HSC0043 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - DNAJC14, HTR6, PPL 3 1 Johan den Dunnen
00438593 HSC0044 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - LPAR4 1 1 Johan den Dunnen
00438594 HSC0045 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - DOCK4 1 1 Johan den Dunnen
00438595 HSC0046 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - FAT4 1 1 Johan den Dunnen
00438596 HSC0047 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - C1orf65, EIF1, GAST, PCDH19 3 1 Johan den Dunnen
00438597 HSC0048 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SETD2, SLC45A2 2 1 Johan den Dunnen
00438598 HSC0049 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - NAGA, RINT1 3 1 Johan den Dunnen
00438599 HSC0050 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ZBTB38, ZBTB41 2 1 Johan den Dunnen
00438600 HSC0051 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - FGA, GRM5, GRM5-AS1 2 1 Johan den Dunnen
00438601 HSC0052 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ACOT7, DNAH5, FBXO31 3 1 Johan den Dunnen
00438602 HSC0053 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SCN1A 1 1 Johan den Dunnen
00438603 HSC0054 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., global developmental delay, moderate intellectual disability; 5m-seizure; EEG generalized spike-wave, poly-spike and wave; MRI brain delayed myelination, 20y-normal; neonatal hypotonia, scoliosis, intractable seizures until puberty, no seizures under LEV and LTG - CLTC, NXN 2 1 Johan den Dunnen
00438604 HSC0055 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - STAG3 1 1 Johan den Dunnen
00438605 HSC0056 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - PTPRF 1 1 Johan den Dunnen
00438606 HSC0061 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - VENTX 1 1 Johan den Dunnen
00438607 HSC0063 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - SCN8A 1 1 Johan den Dunnen
00438608 HSC0066 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - C11orf53, HERC1, IQSEC2 3 1 Johan den Dunnen
00438609 HSC0071 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ING3, SDK2 2 1 Johan den Dunnen
00438610 HSC0075 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - DLGAP4 1 1 Johan den Dunnen
00438611 HSC0077 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - AGTR1, ZNF281 2 1 Johan den Dunnen
00438612 HSC0079 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ADAMTS14, RBM25, SCN8A 3 1 Johan den Dunnen
00438613 HSC0084 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - KCNT1 1 1 Johan den Dunnen
00438614 HSC0087 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - - ITIH6, PRCP, SCN2A 3 1 Johan den Dunnen
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