All individuals with variants in gene GABRB2

19 entries on 1 page. Showing entries 1 - 19.
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00039396 - PubMed: Bosch 2016, Journal: Bosch 2016 - M no Netherlands - - - - - CVI, ID - 1 1 Danielle Bosch
00050151 Fam3PatII1;1242500 PubMed: Isidor 2016, Journal: Isidor 2016, PubMed: Hamdan 2017 - F no United States - - - - - ID no growth failure, behavioural anomalies, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); severe speech delay (HP:0000750) 1 1 Sébastien Küry
00050206 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00177005 73324 - - F no Switzerland - - - - - EE HP:0008936 HP:0000490 HP:0011228 HP:0001763 HP:0001053 1 1 Anaïs Begemann
00269523 - PubMed: Minardi 2020 - F - - - - - - - EE Epileptic Encephalopathy(HP:0200134) 1 1 Francesca Bisulli
00288205 Pat15 PubMed: Lee 2019 - - - United States - - - - - ? decreased body weight, microcephaly, failure to thrive, growth delay, high palate, coarse facial features, low anterior hairline, visual impairment, nystagmus, strabismus, hypotelorism, abnormal electroretinogram, amblyopia, thick eyebrow, synophrys, tapered finger, hypotonia, joint hypermobility, frequent falls, poor head control, ulnar deviation of the hand, malabsorption, hydronephrosis, pelvocaliectasis, enuresis, developmental delay, delayed speech, language development, autistic features, absent speech, seizures, dystonia, spasticity, intellectual disability, gait disturbance, encephalopathy, ataxia, status epilepticus, broad-based gait, gait imbalance, unsteady gait, hyperreflexia, poor fine motor coordination, EEG with central focal spikes, delayed myelination, abnormality of movement, feeding difficulties, chronic constipation 1 1 Johan den Dunnen
00427799 Pat278 PubMed: Zhou 2018 family, 1 affected, unaffected carrier father F - China - - - - - epilepsy intellectual disability; tonic seizure, spasms, atypical absence, complex partial seizure, frequency 2-3/d; EEG burst of fast activity, generalized spike wave, focal spike wave; MRI brain normal; resistant to antiepileptic drugs 1 1 Johan den Dunnen
00433664 family - family with multiple affected individuals - - - - - - - - DEE intellectual disability, speech delay, hyperactivity, EEG abnormality 1 2 Marketa Wayhelova
00438704 HSJ0753 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) F - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., severe global developmental delay; 4m-seizure; EEG bi-frontal predominance spike-wave, hypsarrhythmia, continuous diffuse spike-wave; MRI brain 9d/1y normal; acquired microcephaly, non-ambulation, axial hypotonia, spasticity, nystagmus, cortical visual impairment, intractable seizures 1 1 Johan den Dunnen
00438733 K.02591 PubMed: Hamdan 2017 - F - - - - - - - DEE see paper; ..., global developmental delay, moderate intellectual disability; 6y-seizure; MRI brain normal; acquired microcephaly, no seizures (responded to valproic acid, off medication) 1 1 Johan den Dunnen
00438734 CNSA01 PubMed: Hamdan 2017 - M - - - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; 1d-seizure; EEG multifocal, slow background; MRI brain 1d/18m-diffuse T2 hypersignal white matter; acquired microcephaly, neonatal feeding difficulties, nonambulation, hypotonia, spasticity, dystonia, rare seizures under topiramate 1 1 Johan den Dunnen
00438735 T21213B PubMed: Hamdan 2017 - F - - - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; 4y-seizure; EEG bi-frontal predominance spike-wave or sharp spike-wave; MRI brain normal; acquired microcephaly, non-ambulation, hypotonia, intractable seizures 1 1 Johan den Dunnen
00438736 indvLB PubMed: Hamdan 2017 - F - - - - - - - DEE see paper; ..., global developmental delay; no seizures; EEG normal; MRI brain normal; severe psychomotor delay, generalized dyskinesia, dystonia, cortical visual impairment 1 1 Johan den Dunnen
00438737 T23211 PubMed: Hamdan 2017 - F yes Iraq - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; <5m seizure; EEG multifocal (bi-frontal predominance predominant), slow background; MRI brain delay in myelination, reduction white matter; congenital microcephaly, axial hypotonia, peripheral hypertonia, cortical visual impairment, choreoathetosis, dystonia, failure to thrive, intractable seizures 1 1 Johan den Dunnen
00438738 G64518 PubMed: Hamdan 2017 - F - United Kingdom (Great Britain) - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; 2y-seizure; EEG high-amplitude rhythmic slow waves; MRI brain 2y-mild increase in lateral ventricles, 3y-normal; acquired microcephaly, brisk reflexes, seizure control with lamotrigine 1 1 Johan den Dunnen
00438739 HA076 PubMed: Hamdan 2017 - M - Wales - - - - - DEE see paper; ..., severe global developmental delay, severe intellectual disability; 4y8m-seizure; EEG slow, rhythmic notched slow waves; MRI brain 2y-multifocal T2 hypersignal in white matter at 2 years, 4y9m-norma; spasticity, poor coordination, broad-base gait, seizure control with LVT and LTG 1 1 Johan den Dunnen
00438740 31841 PubMed: Hamdan 2017 - M - - - - - - - DEE see paper; ..., 17d-deceased; severe global developmental delay; 7d-seizure; EEG burst suppression; MRI brain normal; hypotonia, jitteriness, back arching, apneas, intractable seizures 1 1 Johan den Dunnen
00438741 3001866 PubMed: Hamdan 2017 - F - - - - - - - DEE see paper; ..., language delay; 12m-seizure; EEG normal; MRI brain normal; apneas, neuroendocrine cell hyperplasia of infancy, intractable seizures 1 1 Johan den Dunnen
00466207 340374 - - F no Iraq Kurdisch - - - - DEE92;IECEE2 Generalized-onset seizure, Febrile seizure outside the age of 3 months to 6 years, Neurodevelopmental delay 1 1 Andreas Laner
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