TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures. [PDF]
Ng AC, Scantlebury MH.
europepmc +1 more source
Deep learning-based real-time seizure detection and multi-seizure classification on pediatric EEG. [PDF]
Jeong H, Lee K, Kim S, Kang HC, Yang D.
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Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly. [PDF]
Harada M +10 more
europepmc +1 more source
GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications. [PDF]
Xie C, Kessi M, Liu F, He F, Peng J.
europepmc +1 more source
Epilepsy and Neurodevelopment Outcomes 24 Months after Neonatal Hypoxic-Ischemic Encephalopathy and Predictive Factors of Post-neonatal Epilepsy. [PDF]
Cicala G +14 more
europepmc +1 more source
Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation [PDF]
Boltshauser, Eugen +6 more
core
A 15-Year-Old Boy in Long-Term Remission of Epileptic Seizures With Infantile-Onset Attenuated Nonketotic Hyperglycinemia. [PDF]
Itonaga T, Kobayashi O, Ihara K.
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]
Yano ST, Phitsanuwong C.
europepmc +1 more source

