All individuals with variants in gene ADRA2B

3 entries on 1 page. Showing entries 1 - 3.
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00271426 FamA/Fam4 PubMed: De Fusco 2014, PubMed: Corbett 2019 5-generation family, 11 affected (6F, 5M) F;M - Italy - - 0 - - FAME mean age onset 22.3y (12-50y); myoclonus/cortical tremor 11/11, tonic-clonic seizures 11/11, focal seizures 3/11; intellectual disability mild 3/11, moderate 1/11; dementia 0/11; drug resistant epilepsy 2/11; ataxia 0/11 1 11 Johan den Dunnen
00271442 FamB/Fam15 PubMed: De Fusco 2014, PubMed: Corbett 2019 4-generation family, 5 affected (3F, 2M) F;M no Italy - - 0 - - FAME mean age onset 30.3y (18-49y); myoclonus/cortical tremor 4/4, tonic-clonic seizures 3/4, focal seizures 2/4; intellectual disability 0/4; dementia 0/4; drug resistant epilepsy 2/4; ataxia 0/4 1 4 Johan den Dunnen
00292853 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
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