All individuals with variants in gene GNAO1

326 entries on 4 pages. Showing entries 1 - 100.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00033854 - PubMed: Saitsu 2016 - F ? Russian Federation - - - - refractory response to epilepsy treatment EEOC movement disorder; developmental epileptic encephalopathy; 2m-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; severe developmental delay; no speech 1 1 Hirotomo Saitsu
00033855 - PubMed: Saitsu 2016 - F no Japan Japanese - - - refractory response to epilepsy treatment EEOC movement disorder; developmental epileptic encephalopathy; 7d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; severe developmental delay; no speech 1 1 Hirotomo Saitsu
00033856 - PubMed: Saitsu 2016 - F no Japan Japanese - - - - DEE17;EIEE17 movement disorder; no structural changes brain; severe developmental delay; no speech 1 1 Hirotomo Saitsu
00033857 - PubMed: Saitsu 2016 - F no Japan Japanese - - - - DEE17;EIEE17 4y-onset movement disorder; 10y-11y-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; severe developmental delay; affected speech 1 1 Hirotomo Saitsu
00050443 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? excessive salivation, truncal ataxia, spastic diplegia, neurological speech impairment, cognitive impairment 1 1 Johan den Dunnen
00050447 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability profound, feeding difficulties in infancy 1 1 Johan den Dunnen
00050474 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? coarctation of aorta, global developmental delay, chorea, absent speech 1 1 Johan den Dunnen
00089213 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - M - - - - - - - EE movement disorder; developmental epileptic encephalopathy; 9d-onset epilepsy; severe developmental delay 1 1 Johan den Dunnen
00116923 S_353:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00164428 - - - M - (Germany) - - - - - ? HP:0100021 (Cerebral palsy) 1 1 IMGAG
00269903 - - - ? - - - - - - - ? Seizures (HP:0001250); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Hyperactivity (HP:0000752); Strabismus (HP:0000486); Tics (HP:0100033) 1 1 IMGAG
00299456 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Hemiparesis (HP:0001269); Developmental regression (HP:0002376); Infantile axial hypotonia (HP:0009062) 1 1 IMGAG
00302969 Pat14 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 1 1 Johan den Dunnen
00302974 Pat19 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00314878 Trio45 PubMed: Zhu 2015 - M - United States - - - - - ? movement disorder; epilepsy; hypotonia; severe developmental delay 1 1 Johan den Dunnen
00403879 TF098 PubMed: Froukh 2020 analysis 103 families with neurodevelopmental disorders M - Jordan - - - - - NDD movement disorder; epilepsy; developmental delay; hypotonia; affected speech 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 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 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 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 1 1 Johan den Dunnen
00437994 - PubMed: Wirth 2022 - F - - - - - - partially refractory response to treatment movement disorder ? 12y-onset movement disorder; 4y-onset epilepsy; no structural changes brain; no hypotonia; mild developmental delay; normal speech 1 1 Harald Mikkers
00437995 - PubMed: DDD 2017 - F - United Kingdom (Great Britain) - - - - - ? movement disorder; developmental delay 1 1 Harald Mikkers
00437996 - PubMed: Bruun 2018 - M - Canada - - - - - ? developmental epileptic encephalopathy; developmental delay; 6d-onset epilepsy; structural changes brain; hypotonia 1 1 Harald Mikkers
00437997 - PubMed: DDD 2015 - F - - - - - - - ? movement disorder; developmental epileptic encephalopathy; developmental delay; 4d-onset epilepsy; no structural changes brain; hypotonia 1 1 Harald Mikkers
00437998 - Lecoquierre 2018 - - - France - - - - - ? developmental epileptic encephalopathy 1 1 Harald Mikkers
00437999 - PubMed: Danti 2017 - F - Italy - - - - refractory response to epilepsy treatment ? 3y-onset movement disorder; developmental epileptic encephalopathy; 2m-onset epilepsy; structural changes brain, microcephaly, thinned corpus callosum; severe developmental delay; no speech 1 1 Harald Mikkers
00438000 - PubMed: Kelly 2019 - M - - - - - - - ? movement disorder; developmental epileptic encephalopathy; developmental delay; 2m15d-onset epilepsy; structural changes brain; hypotonia; no speech 1 1 Harald Mikkers
00438001 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? developmental epileptic encephalopathy; developmental delay 1 1 Harald Mikkers
00438002 - PubMed: DDD 2017 - F - United Kingdom (Great Britain) - - - - - ? developmental epileptic encephalopathy; ; moderate developmental delay 1 1 Harald Mikkers
00438003 - PubMed: Takata 2019 - - - - - - - - - ? developmental epileptic encephalopathy; developmental delay 1 1 Harald Mikkers
00438004 - PubMed: Yang 2021 - M - China - - - - symptom-free after epilepsy treatment ? developmental epileptic encephalopathy; 4m-onset epilepsy; structural changes brain; hypotonia; moderate developmental delay 1 1 Harald Mikkers
00438005 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? developmental epileptic encephalopathy; developmental delay; 0h-onset epilepsy; no hypotonia 1 1 Harald Mikkers
00438006 - PubMed: Rim 2018 - M - - - - - - - ? developmental epileptic encephalopathy; developmental delay 1 1 Harald Mikkers
00438007 - PubMed: Kelly 2019 - F - - - - - - - ? developmental epileptic encephalopathy; developmental delay; 35d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; hypotonia; no speech 1 1 Harald Mikkers
00438008 - PubMed: Kelly 2019 - M - - - - - - - ? developmental epileptic encephalopathy; developmental delay; 1d-onset epilepsy; structural changes brain, atrophy; hypotonia; no speech 1 1 Harald Mikkers
00438009 - PubMed: Kelly 2019 - F - - - - - - - ? movement disorder; developmental epileptic encephalopathy; developmental delay; 2h-onset epilepsy; structural changes brain; hypotonia; no speech 1 1 Harald Mikkers
00438010 - PubMed: Liu 2022 - F - China - - - - refractory response to treatment movement disorder ? 4y-onset movement disorder; no structural changes brain; no hypotonia; moderate developmental delay; affected speech 1 1 Harald Mikkers
00438011 - PubMed: Powis 2020 - M - - - - - - partially refractory response to epilepsy treatment ? movement disorder; developmental epileptic encephalopathy; hypotonia; severe developmental delay 1 1 Harald Mikkers
00438012 - PubMed: Gawlinski 2016 - F - - - - - - - ? developmental epileptic encephalopathy; 4d-onset epilepsy; structural changes brain, microcephaly, atrophy; hypotonia; severe developmental delay 1 1 Harald Mikkers
00438013 - PubMed: Yang 2021 - F - China - - - - refractory response to epilepsy treatment ? deceased; developmental epileptic encephalopathy; 1d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay 1 1 Harald Mikkers
00438014 - PubMed: Wirth 2022 - F - - - - - - - ? 28m-onset movement disorder; no structural changes brain; hypotonia; no developmental delay; affected speech 1 1 Harald Mikkers
00438015 - PubMed: Thiel 2023 - - - Germany - - - - partially refractory response to treatment movement disorder ? 4m-onset movement disorder; no structural changes brain; hypotonia; no speech 1 1 Harald Mikkers
00438016 - PubMed: Danti 2017 - M - Italy - - - - partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment ? deceased; 4m-onset movement disorder; 3y-onset epilepsy; structural changes brain, thinned corpus callosum; hypotonia; severe developmental delay; no speech 1 1 Harald Mikkers
00438017 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? movement disorder; no structural changes brain; hypotonia; moderate developmental delay; no speech 1 1 Harald Mikkers
00438018 Pat5 Journal: Saez Gonzalez 2023 - M - Netherlands - - - - partially refractory response to treatment movement disorder; refractory response to epilepsy treatment ? deceased; movement disorder; developmental epileptic encephalopathy; hypotonia; severe developmental delay; no speech 1 1 Harald Mikkers
00438019 - PubMed: Rim 2018 - - - - - - - - - ? developmental epileptic encephalopathy; developmental delay 1 1 Harald Mikkers
00438020 - PubMed: Solis 2021 - M - - - - - - symptom-free after epilepsy treatment ? deceased; movement disorder; developmental epileptic encephalopathy; 1m15d-onset epilepsy; structural changes brain, altered (de)myelination; severe developmental delay 1 1 Harald Mikkers
00438021 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? developmental delay; hypotonia; no speech 1 1 Harald Mikkers
00438022 - PubMed: Danti 2017 - F - Italy - - - - symptom-free after epilepsy treatment ? 5y-onset movement disorder; 4y-onset epilepsy; structural changes brain; no hypotonia; moderate developmental delay; normal speech 1 1 Harald Mikkers
00438023 - PubMed: Thiel 2023 - - - Germany - - - - partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment ? neonatal onset movement disorder; movement disorder; epilepsy; developmental delay; <0d-onset epilepsy; structural changes brain, atrophy; hypotonia; no speech 1 1 Harald Mikkers
00438024 - PubMed: Thiel 2023 - - - Germany - - - - partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment ? deceased; movement disorder; developmental epileptic encephalopathy; <0d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; hypotonia; severe developmental delay; no speech 1 1 Harald Mikkers
00438025 - - - - - - - - - - - ? - 1 1 Harald Mikkers
00438026 - PubMed: Helbig 2020 - F - - - - - - - ? epilepsy 1 1 Harald Mikkers
00438027 - PubMed: Yang 2021 - F - China - - - - symptom-free after epilepsy treatment ? movement disorder; developmental epileptic encephalopathy; 1d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay 1 1 Harald Mikkers
00438028 - Decipher - F - - - - - - - ? epilepsy; hypotonia; severe developmental delay 1 1 Harald Mikkers
00438029 - PubMed: Bobylova 2023 - - - Russia - - - - refractory response to epilepsy treatment ? movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia; affected speech 1 1 Harald Mikkers
00438030 - - - - - - - - - - - ? - 1 1 Harald Mikkers
00438031 - Shah 2022, ISPMD - F - - - - - - refractory response to epilepsy treatment ? deceased; 8m-onset movement disorder; 3m-onset epilepsy; developmental delay 1 1 Harald Mikkers
00438032 - PubMed: Muir 2019 - - - - - - - - - ? movement disorder; developmental epileptic encephalopathy; structural changes brain, microcephaly; severe developmental delay 1 1 Harald Mikkers
00438033 - PubMed: Graziola 2019 - M - - - - - - partially refractory response to treatment movement disorder; partially refractory response to epilepsy treatment ? 12y-onset movement disorder; epilepsy; no structural changes brain; hypotonia; mild developmental delay; affected speech 1 1 Harald Mikkers
00438034 - PubMed: Turro 2020 - - - - - - - - - ? movement disorder; epilepsy 1 1 Harald Mikkers
00438035 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? deceased; 3m-onset movement disorder; epilepsy; hypotonia 1 1 Harald Mikkers
00438036 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? 3m-onset movement disorder; epilepsy; hypotonia 1 1 Harald Mikkers
00438037 Pat8 Journal: Saez Gonzalez 2023 - M - Netherlands - - - - - ? hypotonia 1 1 Harald Mikkers
00438038 - PubMed: Powis 2020 - - - - - - - - - ? movement disorder 1 1 Harald Mikkers
00438039 - - - - - - - - - - - ? - 1 1 Harald Mikkers
00438040 - Decipher - F - - - - - - - ? epilepsy; severe developmental delay; no speech 1 1 Harald Mikkers
00438041 patient;Pat6 PubMed: Marce-Grau 2016, PubMed: Domínguez-Carral 2023 - F - Spain - - - - partially refractory response to epilepsy treatment ? deceased; 3m-onset movement disorder; developmental epileptic encephalopathy; 3d-onset epilepsy; structural changes brain, microcephaly, atrophy, thinned corpus callosum, altered (de)myelination; hypotonia; severe developmental delay 1 1 Harald Mikkers
00438042 - PubMed: Zou 2021 - M - - - - - - - ? developmental epileptic encephalopathy; developmental delay; 4d-onset epilepsy 1 1 Harald Mikkers
00438043 - PubMed: Arisaka 2021 - F - - - - - - partially refractory response to treatment movement disorder; refractory response to epilepsy treatment ? 16m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 2d-onset epilepsy 1 1 Harald Mikkers
00438044 - PubMed: Arya 2017 - M - - - - - - partially refractory response to epilepsy treatment ? movement disorder; developmental epileptic encephalopathy; 1m-onset epilepsy; structural changes brain, atrophy; no hypotonia; moderate developmental delay 1 1 Harald Mikkers
00438045 - PubMed: Fernandez-Marmiesse 2019 - F - Spain - - - - - ? movement disorder; developmental epileptic encephalopathy; developmental delay; 1m-onset epilepsy 1 1 Harald Mikkers
00438046 - PubMed: Fernandez-Marmiesse 2019 - F - Spain - - - - - ? epilepsy 1 1 Harald Mikkers
00438047 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? 18m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 1m15d-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438048 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? 1d-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <1d-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438049 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? <1y-onset movement disorder; 3y-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438050 - Journal: Saez Gonzalez 2023 - F - - - - - - - ? developmental epileptic encephalopathy; developmental delay; 5h-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438051 - PubMed: DDD 2017 - M - United Kingdom (Great Britain) - - - - - ? epilepsy; developmental delay 1 1 Harald Mikkers
00438052 - PubMed: DDD 2017 - M - United Kingdom (Great Britain) - - - - - ? epilepsy; hypotonia; severe developmental delay 1 1 Harald Mikkers
00438053 - Journal: Saez Gonzalez 2023 - M - - - - - - - ? deceased; 3m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 3d-onset epilepsy 1 1 Harald Mikkers
00438054 - Journal: Saez Gonzalez 2023 - F - - - - - - symptom-free after epilepsy treatment ? <1y-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 1m15d-onset epilepsy 1 1 Harald Mikkers
00438055 - Journal: Pawłowicz 2021 - F - - - - - - symptom-free after epilepsy treatment ? movement disorder; developmental epileptic encephalopathy; developmental delay; 14d-onset epilepsy 1 1 Harald Mikkers
00438056 - PubMed: Retterer 2016 - F - - - - - - - ? movement disorder 1 1 Harald Mikkers
00438057 - PubMed: Schirinzi 2019 - F - - - - - - partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment ? 11m-onset movement disorder; developmental epileptic encephalopathy; 1d-onset epilepsy; structural changes brain, thinned corpus callosum; hypotonia; severe developmental delay; no speech 1 1 Harald Mikkers
00438058 - PubMed: Schirinzi 2019 - M - - - - - - partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment ? 2y-onset movement disorder; developmental epileptic encephalopathy; developmental delay; 12d-onset epilepsy; structural changes brain, atrophy, altered (de)myelination; hypotonia; no speech 1 1 Harald Mikkers
00438059 - PubMed: Schorling 2017 - F - - - - - - refractory response to treatment movement disorder; refractory response to epilepsy treatment ? movement disorder; developmental epileptic encephalopathy; developmental delay; 3m-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; no hypotonia 1 1 Harald Mikkers
00438060 - PubMed: Schorling 2017 - F - - - - - - partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment ? movement disorder; developmental epileptic encephalopathy; developmental delay; 9d-onset epilepsy; structural changes brain, atrophy; hypotonia 1 1 Harald Mikkers
00438061 - PubMed: Takata 2019 - - - - - - - - - ? developmental epileptic encephalopathy; developmental delay 1 1 Harald Mikkers
00438062 - PubMed: Xiong 2018 - F - China - - - - symptom-free after epilepsy treatment ? deceased; developmental epileptic encephalopathy; developmental delay; no structural changes brain; hypotonia 1 1 Harald Mikkers
00438063 - PubMed: Yang 2021 - M - China - - - - refractory response to treatment movement disorder; symptom-free after epilepsy treatment ? deceased; movement disorder; developmental epileptic encephalopathy; 12d-onset epilepsy; no structural changes brain; hypotonia; moderate developmental delay 1 1 Harald Mikkers
00438064 - PubMed: Bobylova 2023 - - - Russia - - - - refractory response to epilepsy treatment ? deceased; 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438065 - PubMed: Bobylova 2023 - - - Russia - - - - refractory response to epilepsy treatment ? deceased; 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438066 - PubMed: Bobylova 2023 - - - Russia - - - - refractory response to epilepsy treatment ? 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438067 - PubMed: Bobylova 2023 - - - Russia - - - - refractory response to epilepsy treatment ? 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438068 - PubMed: Bobylova 2023 - - - Russia - - - - refractory response to epilepsy treatment ? 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438069 - PubMed: Bobylova 2023 - - - Russia - - - - symptom-free after epilepsy treatment ? 02m-08m-onset movement disorder; developmental epileptic encephalopathy; developmental delay; <3m-onset epilepsy; hypotonia 1 1 Harald Mikkers
00438070 - Shah 2022, ISPMD - F - - - - - - - ? deceased; 4m-onset movement disorder; developmental delay 1 1 Harald Mikkers
00438071 - PubMed: Novelli 2023 - F - Italy - - - - partially refractory response to treatment movement disorder; symptom-free after epilepsy treatment ? 4y-onset movement disorder; 1y-onset epilepsy; developmental delay; structural changes brain, microcephaly, atrophy, thinned corpus callosum; hypotonia 1 1 Harald Mikkers
00438072 - PubMed: Novelli 2023 - F - Italy - - - - refractory response to treatment movement disorder; partially refractory response to epilepsy treatment ? 9y-onset movement disorder; 21d-onset epilepsy; developmental delay; structural changes brain, atrophy; hypotonia 1 1 Harald Mikkers
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