All individuals with variants in gene BRAT1

12 entries on 1 page. Showing entries 1 - 12.
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00168941 - - - M no Italy - - 0 - - RMFSL neurodevelopmental delay, mild-moderate intellectual disability,congenital non-progressive ataxia, generalized hypotonia, decreased muscle strength and trophism, bilateral pes planus, severe dysarthria, strabismus and nystagmus, Moderate-severe sensorineural hearing loss, global cerebellar hypoplasia with enlarged interfolial spaces on brain MRI 2 1 Enza Maria Valente
00168942 - - - M no Italy - - 0 - - RMFSL neurodevelopmental delay, mild-moderate intellectual disability,congenital non-progressive ataxia, generalized hypotonia, decreased muscle strength and trophism, bilateral pes planus, severe dysarthria, nystagmus, marked enlargement of cerebellar interfolial spaces on brain MRI 2 1 Enza Maria Valente
00177003 73311 - - M no Austria - - 0 - - EE - 2 1 Anaïs Begemann
00294419 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 42 Mohammed Faruq
00294420 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 32 Mohammed Faruq
00305149 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00305150 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00325074 - - - F no Italy - - 0 - - ? 13y-decline in scholar performance (impairments in memory and attention); 14y-tonic-clonic seizure (further seizures characterized by staring spells and palpebral myoclonus); mild daily fluctuating ataxia, distal tremor, bradylalia, borderline intellectual functioning (IQ 73 Wechsler scale); EEG diffuse sharp-and-wave complexes; MRI and MR Spectroscopy (MRS) shrunken cerebellum with reduction of the N-acetyl aspartate peak, without progression over time; antiepileptic drugs (including valproic acid, levetiracetam and lamotrigine) ineffective in complete control seizures; stable clinical course; double-membrane bound granular and osmiophilic inclusions cytoplasm dermal fibroblasts and myelinated fibers on skin biopsy 2 1 Sara Nuovo
00375646 Pat29 PubMed: Srivastava 2014 family, several affected - - United States - - 0 - - ? intellectual disability/developmental delay; microcephaly; strabismus, nystagmus; dysarthria; hypotonia, tremor, ataxia, dysmetria, broad-based gait; hyper-reflexia; stereotyped behavior; MRI brain cerebellar atrophy 2 2 Johan den Dunnen
00408973 2 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - RMFSL in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) 1 1 LOVD
00408974 3 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - RMFSL in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) 1 1 LOVD
00408975 4 PubMed: Puffenberger 2012 no patient number in publication, consecutive numbers given ? - - Old Order Amish and Mennonite - 0 - - RMFSL in utero myoclonic spasms;neonatal-onset intractable focal seizures; congenital rigidity; dysautonomia (hypothermia, apnea, bradycardia, sids) 1 1 LOVD
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