Results 121 to 130 of about 3,535 (212)

New variants and genotype-phenotype correlation of <i>PPP3CA</i>-related developmental and epileptic encephalopathy. [PDF]

Front Neurosci
Wang T, Ouyang S, Niu X, Cheng M, Yang Y, Yang Y, Tan Q, Liu W, Yang X, Zhang Y.   +9 more
europepmc   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature. [PDF]

Epileptic Disord
Kapoor D, Sharma S, Kaminska A, Nabbout R, Chemaly N, Schiff M, De Lonlay P, Eisermann M.   +7 more
europepmc   +1 more source

How to Read an EEG: Epileptiform Abnormalities. [PDF]

Neurol Educ
Marcinski Nascimento KJ, Yuan D, Guerriero RM, Hirsch LJ, Beniczky S, Nascimento FA.   +5 more
europepmc   +1 more source

Toward precision medicine in <i>SCN3A</i> variants-associated encephalopathies and epilepsy: optimizing genetic diagnosis and molecular subregional effects. [PDF]

Front Neurol
Wang PY, Zhao JX, Liu WH, Chen YJ, Wang HW.   +4 more
europepmc   +1 more source

A randomized controlled double-blind study on the brain protection of infantile patients with epileptic spasm syndrome through atomized inhalation of hydrogen-oxygen gas. [PDF]

Front Neurol
Chen C, He W, Chen J, Shi XY, Yang G, Wang J, Wang YY, Hu PL, Han F, Meng Y, Zou LP.   +10 more
europepmc   +1 more source

Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum. [PDF]

Orphanet J Rare Dis
Mei D, Gu Y, Zhang B, Mei S, Wang X, Ma Y, Deng J, Tang J.   +7 more
europepmc   +1 more source

Landau-Kleffner Syndrome Can Herald the Diagnosis of GRIN2A Gene Mutation. [PDF]

Case Rep Pediatr
Ebrahim AK, Makhlooq JJ, Busehail MY.
europepmc   +1 more source

Adrenocorticotropic hormone combined with vigabatrin as a second-line therapy for West syndrome. [PDF]

Arq Neuropsiquiatr
Souza LP, Bufara DC, Tensini TS, Antoniuk SA, Franklin GL, Crippa ACS.   +5 more
europepmc   +1 more source

Infantile epileptic spasms syndrome as a new phenotype in TOP2B deficiency caused by a <i>de novo</i> variant: a case report and literature review. [PDF]

Front Pediatr
Zhu GQ, Yao Y, Yang LY, Hua Y, Li GM.
europepmc   +1 more source

Identification of De Novo <i>ZBTB18</i> Variant in a Patient With Global Developmental Delay, Seizures, and Juvenile Facies. [PDF]

Int J Pediatr
Wu Y, Li B, Liu L, Wang Y, Li D.
europepmc   +1 more source