Results 181 to 190 of about 15,684 (257)

Familial West syndrome and dystonia caused by an Aristaless related homeobox gene mutation [PDF]

, 2018
Boltshauser, Eugen, Gross, Claudia, Hehr, Ute, Schmitt, Bernhard, Uyanik, Goekhan, Winkler, Jürgen, Wohlrab, Gabriele   +6 more
core  

CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotonia. [PDF]

BMC Med Genomics
Safarian Z, Mehrabi S, Rakhshani Nejad A, Alavimanesh S, Kavousinia P, Shushizadeh MH, Hassani SF, Onagh L, Sarli A, Rezaie N.   +9 more
europepmc   +1 more source

Short-Term Outcomes and Immunologic Mechanisms of Adrenocorticotropic Hormone in Infantile Epileptic Spasm Syndrome: A Multicenter Prospective Trial in Southern China. [PDF]

Neurol Ther
Ran Y, Peng B, Li J, Chang Y, Wang X, Zhuo C, Zheng K, Zhang Y, Yu J, Zhu H, Tian Y, Hou C, Wu W, Wu W, Li X, Chen WX.   +15 more
europepmc   +1 more source

Highly purified cannabidiol (CBD) in CDKL5 deficiency disorder (CDD): Open-label prospective study. [PDF]

Epilepsia Open
Perulli M, De Gioia A, Ruggiero F, Ascione F, Porto C, Musto E, Massaroni V, Picilli M, Gambardella ML, Quintiliani M, Contaldo I, Veredice C, Battaglia DI.   +12 more
europepmc   +1 more source

Corticotherapy versus adrenocorticotropic hormone for treating West syndrome: a systematic review and meta-analysis. [PDF]

Arq Neuropsiquiatr
Farias EH, Silva AMPD, Santos KDAD, Neto APM, Koppanatham A, Souza JCAM, Pacheco-Barrios N, Rocha GS, Noleto GS.   +8 more
europepmc   +1 more source

Infantile Spasms [PDF]

, 2019
openaire   +1 more source

TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures. [PDF]

Epileptic Disord
Ng AC, Scantlebury MH.
europepmc   +1 more source

Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly. [PDF]

Hum Genome Var
Harada M, Onuki T, Nyuzuki H, Suzuki H, Ito K, Hasegawa G, Hayashi H, Tada M, Takenouchi T, Murayama K, Suzuki H.   +10 more
europepmc   +1 more source

Infantile spasms.

Indian pediatrics, 1997
openaire   +1 more source

Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches. [PDF]

Neurol Sci
Saad AK, Akawi N.
europepmc   +1 more source