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 261
Associated with 12 genes ATP1A3, CELF2, DALRD3, DNM1, GAD1, GLUL, GNAO1, KCNA2, KCNH5, 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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