Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings. [PDF]
Case Rep PediatrPereira DA +3 more
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Cognitive behavioural therapy and related interventions for sleep disorders in children and adults with autism spectrum disorder: protocol for a systematic review and meta-analysis. [PDF]
BMJ OpenZhai Q +8 more
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Genotypic and phenotypic spectrum of PRRT2-related variations: clinical analysis and treatment response in fourteen unrelated Chinese patients. [PDF]
BMC Med GenomicsLiu F +7 more
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Investigation of risk factors for autism spectrum disorder in children with tuberous sclerosis complex. [PDF]
BMC PsychiatryHu J, Zhao C, Fang Y, Zhang H, Liao J.
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Burden of illness in tuberous sclerosis complex-associated epilepsy: a systematic literature review of epidemiology, health-related quality of life, costs and resource use. [PDF]
Orphanet J Rare DisFurber A +6 more
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A Case of Infantile Epileptic Spasms Syndrome with the <i>SPTBN1</i> Mutation and Review of βII-Spectrin Variants. [PDF]
Genes (Basel)Jang HN, Ryu J, Kim SS, Moon JH.
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Exploring the pathogenicity and genotype-phenotype correlation of 16p13.11 microduplication: a report of two cases. [PDF]
Transl PediatrXu J, Shen X, Chen W, Chen Y, Li H.
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Opioid peptides in autism spectrum disorder and gluten-free casein-free diet as a therapeutic approach. [PDF]
Metab Brain DisÖztürk E +3 more
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Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions in a Child With Inherited Co-deletion of 16p11.2 and 16p12.2: A Case Report and Literature Review. [PDF]
CureusDing M, Yin B, Liu Y, Yao J, Dong H.
europepmc +1 more source