All individuals with variants in gene GAD1

24 entries on 1 page. Showing entries 1 - 24.
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00296001 - - - F - - - - - - - ? Epileptic encephalopathy (HP:0200134) 1 1 Gunnar Schmidt
00443871 FamAPatIII1 PubMed: Chatron 2020 3-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Algeria - - - - - DEE see paper; ..., <6m-epileptic spasms; 3y-generalized tonic-clonic seizures; EEG at onset hypsarrhythmic; drug-resistant epilepsy; axial hypotonia, spasticity, scoliosis; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features; MRI brain 2y6m-normal 1 2 Johan den Dunnen
00443872 FamAPatIII2 PubMed: Chatron 2020 sister F yes Algeria - - - - - DEE see paper; ..., 1d--epileptic spasms; 3m-seizure-free; EEG at onset suppression-burst pattern; axial hypotonia, increased muscle tonus limbs, abnormal eye movements; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features 1 1 Johan den Dunnen
00443873 FamBPatIV4 PubMed: Chatron 2020 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives F yes Egypt - 2y - - - DEE see paper; ..., 2y-deceased; 14d-epileptic spasms, ‘eye twitches’; 9m-seizure-free; EEG at onset suppression-burst pattern; spasticity, scoliosis; profound intellectual disability; pes equinovarus; omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain mild-to-moderate cerebral and cerebellar (progressive) atrophy L > R, hypoplastic CC (1m and 2y), cervical notch 1 2 Johan den Dunnen
00443874 FamBPatIV1 PubMed: Chatron 2020 sister M yes Egypt - 4y - - - DEE see paper; ..., 4y-deceased; -epileptic spasms, ‘eye twitches’; 2y-seizure-free; EEG at onset suppression-burst pattern; hyperreflexia, spasticity; profound intellectual disability; pes equinovarus; omphalocele; no cleft palate; joint contractures; dysmorphic facial features 1 1 Johan den Dunnen
00443875 FamCPatIII1 PubMed: Chatron 2020 3-generation family, affected sister/brother, unaffected heterozygous parents/relatives F yes Turkey - - - - - DEE see paper; ..., 14d-myoclonic seizure; 5m-generalized tonic-clonic seizures; EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; conductive hearing loss; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 3y-normal 1 2 Johan den Dunnen
00443876 FamCPatIII2 PubMed: Chatron 2020 brother M yes Turkey - 2y - - - DEE see paper; ..., 2y-deceased; first days of life myoclonic seizure, tonic seizures,generalized tonic-clonic seizures; increasing seizure frequency (type unknown); EEG at onset suppression-burst pattern; drug-resistant epilepsy; tetraparesis, increased muscle tonus limbs; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; MRI brain 1y-normal 1 1 Johan den Dunnen
00443877 FamDPatV2 PubMed: Chatron 2020 4-generation family, affected brother/sister, unaffected heterozygous parents/relatives M yes Iran - - - - - DEE see paper; ..., 1d-myoclonic seizure; 10y-last seizure; EEG at onset dysrhythmia; 10y-last seizure; axial hypotonia, spasticity, dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain normal 1 2 Johan den Dunnen
00443878 FamDPatV3 PubMed: Chatron 2020 sister F yes Iran - - - - - DEE see paper; ..., 7d-epileptic spasms, myoclonic seizure; no seizures reported for 2 m; EEG at onset suppression-burst pattern/burst attenuation; axial hypotonia, mild dystonia; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; no joint contractures; no dysmorphic facial features; MRI brain posterior cervical junction notch 1 1 Johan den Dunnen
00443879 FamEPatIII2 PubMed: Chatron 2020 3-generation family, 2 affected brothesr, unaffected heterozygous parents/relatives M yes Turkey - - - - - DEE see paper; ..., 1m-epileptic spasms; 2m-seizure-free; EEG at onset hypsarrhythmic; axial hypotonia, spasticity; profound intellectual disability; pes equinovarus; no omphalocele; cleft palate; joint contractures; dysmorphic facial features; MRI brain 50d-normal, CT 2m-atlanto-axial anomaly, minimal hydrocephalus 1 2 Johan den Dunnen
00443880 FamEPatIII1 PubMed: Chatron 2020 brother M yes Turkey - 9d - - - DEE see paper; ..., 9d-deceased; 1d-myoclonic seizure; pes equinovarus; no omphalocele; cleft palate; no joint contractures; no dysmorphic facial features; cranial ultrasound germinal matrix haemorrhage 1 1 Johan den Dunnen
00443881 FamFPatIV1 PubMed: Chatron 2020 3-generation family, 1 affected brother, unaffected heterozygous parents/relatives F yes Brazil - - - - - DEE see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation 1 1 Johan den Dunnen
00443883 patient PubMed: Von Hardenberg 2020 2-generation family, 1 affected, unaffected heterozygous parents F no Germany - - - - - DEE see paper; ..., mild malformations, early-onset epileptic encephalopathies with burst suppression pattern 1 1 Johan den Dunnen
00443885 FamAPAtIII2 PubMed: Neyray 2020 3-generation family, 1 affected, unaffected heterozygous parents (double first cousins)/relatives F - Iran Persia - - - - NDD see paper; ..., delayed in all milestones, 4y-simple speech, walking delayed, no complex movements; moderate intellectual disability; high myopia; normal hearing; dysmorphic facial features; no cleft palate; clindodactyly, pes planus, scoliosis; mild hypotonia; 2m-onset epilepsy; focal non/motor seizures with impaired awareness; seizures 7y-controlled (5y6m-last seizure); EEG onset burst suppression; 11y-EEG normal; 5y-cardiovascular MRI normal; hydronephrosis, nephrocalcinosis, bilateral kidney stones 1 1 Johan den Dunnen
00443886 FamBPatIII4 PubMed: Neyray 2020 3-generation family, 1 affected, unaffected heterozygous parents/relatives M yes Pakistan - - - - - NDD see paper; ..., delayed in all milestones, sitting and crawling; severe intellectual disability; normal vision; normal hearing; dysmorphic facial features; no cleft palate; arthrogryposis of lower limbs; brisk deep tendon reflexes, stereotypic hand movements, oral automatisms; 6m-onset epilepsy; focal motor seizures with impaired awareness, bilateral tonic clonic seizures; seizures 10y-controlled (7y-last seizure); EEG onset multifocal and generalized epileptogenic activity; 7y-EEG normal; 6m-cardiovascular MRI prominent ventricular space; 1 1 Johan den Dunnen
00443887 FamCPatII1 PubMed: Neyray 2020 2-generation family, 1 affected, unaffected heterozygous parents M no United States African American - - - - NDD see paper; ..., delayed in all milestones, no head control, no sitting, no speech; severe intellectual disability; no dysmorphic facial features; no cleft palate; no skeletal abnormalities; mild hypotonia, spasticity in lower extremities, oropharyngeal dysphagia; 2m-onset epilepsy; focal non/motor seizures with impaired awareness, bilateral tonic clonic seizures; 28m-seizures refractory; EEG onset burst suppression; 28m4m-EEG slowing, multifocal epileptic discharges; 2m-cardiovascular MRI normal; NG-tube dependent 2 1 Johan den Dunnen
00443888 FamDPatII4 PubMed: Neyray 2020 2-generation family, 1 affected, unaffected heterozygous parents (2nd cousins)/relatives M yes Sudan - - - - - NDD see paper; ..., severe delay, 18m-poor head control achieved, no sitting; severe intellectual disability; normal vision; normal hearing; dysmorphic facial features; no cleft palate; short arms; severe hypotonia, dysphagia (floppy epiglottis); 2m-onset epilepsy; epileptic spasms; 18m-spasms continue, seizures controlled; EEG onset hypsarrhythmia; 18m4m-EEG no epileptic abnormalities; 6m-cardiovascular MRI normal; diastasis recti 1 1 Johan den Dunnen
00443889 FamEPatIII3 PubMed: Neyray 2020 3-generation family, 2 affected sisters, unaffected heterozygous parents (1st cousins)/relatives F yes Egypt - - - - - NDD see paper; ..., severe delay in all milestones, bed ridden; severe intellectual disability; normal vision; moderate hearing impairment; dysmorphic facial features; cleft palate (surgical correction); congenital hip dislocation and malformation; severe hypotonia, hyporeflexia, dysphagia; 6m-onset epilepsy; bilateral tonic clonic seizures; 4y-seizures refractory; EEG onset generalized epileptogenic activity; 1y-cardiovascular MRI moderate global atrophy; intermittent NG tube dependence 1 1 Johan den Dunnen
00443890 FamFPatII2 PubMed: Neyray 2020 2-generation family, 1 affected, unaffected heterozygous parents (1st cousins)/relatives F yes Turkey - - - - - NDD see paper; ..., severe delay in all milestones, no sitting or crawling; severe intellectual disability; high myopia; normal hearing; no dysmorphic facial features; no cleft palate; severe hypotonia; 2m-onset epilepsy; focal to bilateral motor seizures with impaired awareness; 1 seizure/week, partially controlled ; EEG onset hypsarrhythmia; 4m-EEG generalized epileptiform activity; 2m-cardiovascular MRI normal 1 1 Johan den Dunnen
00443905 FamA;FamPatV1 PubMed: Morgan 2021, PubMed: Lynex 2004 5-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives F yes United Kingdom (Great Britain) Pakistan - - - - ? microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes; plantar response upgoing; bilateral congenital dislocation hips; fixed flexion deformities both knees; never walked independently, 2y6m-mobility with frame; 4y-wheelchair bound after surgery congenital hip dislocation; convergent squint 1 7 Johan den Dunnen
00443906 FamA;FamPatV2 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., full-term normal delivery; severe learning disability; no epilepsy; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; equivocal plantar response; thoracolumbar scoliosis; fixed flexion deformities both knees, extension at hips; distal muscle wasting lower limbs; 2y6m-crawl, became wheelchair dependent 1 1 Johan den Dunnen
00443907 FamA;FamPatV5 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., severe learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; plantar response upgoing; 2y-crawl 1 1 Johan den Dunnen
00443908 FamA;FamPatV7 PubMed: Morgan 2021, PubMed: Lynex 2004 sister F yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., full-term normal delivery; mild/moderate learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; increased lower limb reflexes/tone; plantar response upgoing; 22y-dysarthria, fixed flexion knees; upper and lower limb wasting; became wheelchair dependent; congenital convergent squint; normal nerve conduction studies, EMG normal, creatinine kinase normal 1 1 Johan den Dunnen
00443909 FamA;FamPatV8 PubMed: Morgan 2021, PubMed: Lynex 2004 brother M yes United Kingdom (Great Britain) Pakistan - - - - ? see paper; ..., full-term normal delivery; no severe learning disability; no epilepsy; no microcephaly; severe ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; muscle wasting lower limbs; 2y6m-walk, 22y-partially wheelchair-bound; horizontal ophthalmoplegia, ERG substantially reduced responses on right, absent on left; normal CPK and lactate, amino acids (blood and urine), organic acids, ferritin and caeruloplasmin 1 1 Johan den Dunnen
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