Results 111 to 120 of about 9,663 (193)

Aspartate-Glutamate Carrier 1 (<i>SLC25A12</i>) Deficiency: Malate-Aspartate Shuttle Failure, Neurodevelopmental Epileptic Encephalopathy, and Ketone-Based Metabolic Therapy. [PDF]

Int J Mol Sci
Murano M, Iaconisi GN, Monné M, Ahmed A, Fiermonte G, Capobianco L, Dolce V.   +6 more
europepmc   +1 more source

Genetic Risk Factors for Epilepsy: From Familial Studies to Gene Discoveries and Polygenic Risk Scores, Strides Toward Unlocking an Age-Old Question in Epilepsy. [PDF]

Epilepsy Curr
Yano ST, Phitsanuwong C.
europepmc   +1 more source

Medical Gases as Emerging Regulators of Paediatric Endocrine and Neurodevelopmental Pathways: A Mini-Review. [PDF]

Acta Paediatr
Paparella R, Panvino F, Pucarelli I, Tarani L.   +3 more
europepmc   +1 more source

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism. [PDF]

NPJ Genom Med
Matheny-Rabun C, Holloway L, Corning K, Louie R, Lu P, Smol T, Boussion S, Woods E, Johnson D, Williams C, Steet R, Friez M, Arno G, Stevenson R, Flanagan-Steet H.   +14 more
europepmc   +1 more source

Measurement properties of assessment tools for affiliate stigma in parents of children with autism: a systematic review protocol. [PDF]

BMJ Open
Zhu M, Liu J, Xiao H, Shi F, Li K, Tao L.   +5 more
europepmc   +1 more source

A Retrospective Cross-Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic. [PDF]

Clin Genet
Weisblum Neuman H, Via Dorembus S, Shlomovitz O, Greenberger S, Lahav E, Mini-Goldberger S, Tzadok M.   +6 more
europepmc   +1 more source

A scoping review of the relationship between autistic traits and eating disorders: exploring the secondary impact of eating disorders and co-occurring psychiatric diagnoses. [PDF]

Front Psychiatry
Kerr-Gaffney J, Nimbley E, Austin A, Gillespie-Smith K, Sharpe H, Duffy F.   +5 more
europepmc   +1 more source

Stratification of Phenotypes in Childhood-Onset <i>COL4A1/COL4A2</i>-Related Disorders Based on Age of Presentation. [PDF]

Neurol Genet
Porcari GS, Rashid RN, Mulvihill CA, Beslow LA, Dubbs HA, Schindewolf EM, Kaufman MC, Gonzalez AK, Gebb JS, Agarwal S, Whitehead MT, Cristancho AG.   +11 more
europepmc   +1 more source

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications. [PDF]

Orphanet J Rare Dis
Xie C, Kessi M, Liu F, He F, Peng J.
europepmc   +1 more source

Lost in Sleep Transition: Tangled Sleep and Thermoregulation in Dravet Syndrome. [PDF]

Epilepsy Curr
Wong JC.
europepmc   +1 more source