br Genotype phenotype correlations Genotype phenotype

2019-07-15

Genotype-phenotype correlations Genotype-phenotype correlations are limited. Compared with individuals with truncating variants, those with pathogenic missense variants in the adenosine triphosphate binding site had a milder disorder, some with ability to walk unaided, better hand use, and less refractory epilepsy.

br Funding sources br Introduction

2019-07-13

Introduction Psychiatric comorbidities affect up to 70% of people with pharmacoresistant epilepsy and significantly impact quality of life [1]. Psychiatric comorbidities in epilepsy have been thought to be due to psychosocial stress. However, recent evidence suggests a more complex pathogenesis.

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2018-07-29