Results 121 to 130 of about 2,875,412 (170)

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs. [PDF]

HGG Adv
Bonde LD, Holling T, Alawi M, El Beheiry AA, Mir Hassani Z, Bachand F, Abdelrazek IM, Kutsche K.   +7 more
europepmc   +1 more source

A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms.

J Neurosci Rural Pract, 2022
Gowda VK, Hiremath R, Gornale V, Shivappa SK, Benakappa N, Benakappa A.   +5 more
europepmc   +1 more source

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations. [PDF]

Brain Commun
Coleman M, Wang M, Snell P, Lee WS, D'Arcy C, Mignone C, Pope K, Gillies G, Maixner W, Wray A, Harvey AS, Simons C, Leventer RJ, Stephenson SEM, Lockhart PJ, Howell KB.   +15 more
europepmc   +1 more source

Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine. [PDF]

Genes (Basel)
Snyder HE, Jain P, RamachandranNair R, Jones KC, Whitney R.   +4 more
europepmc   +1 more source

Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series. [PDF]

Epilepsia Open
Edmonds B, Ngo JP, Groves A, Reyes B, Gott RA, Chia DJ, Mirbaha H, Magaki S, Khanlou N, Pineles SL, Salamon N, Thompson RM, Newman M, Rajaraman RR, Hussain SA, Fallah A, Russell B, Nariai H.   +17 more
europepmc   +1 more source

Comparative Small RNA Sequencing Reveals Candidate Functional miRNAs in Nonketotic Hyperglycinemia. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Özketen AÇ, Kılıç M.   +3 more
europepmc   +1 more source

Effectiveness and safety analysis of ketogenic diet therapy for drug-resistant epilepsy caused by structural pathology. [PDF]

Front Neurol
Zhang H, Su S, Zhang H, Sun L, Liu Y, Liu G.   +5 more
europepmc   +1 more source

Drug review: mTOR-inhibitor therapy in fetal cardiac rhabdomyoma-a tightrope walk. [PDF]

Front Pediatr
Muschel N, Höck M, Griesmaier E, Azim SA, Ralser E, Schreiner C, Schermer E, Kiechl-Kohlendorfer U, Mutz-Dehbalaie I, Michel M.   +9 more
europepmc   +1 more source

Progress of ketogenic diet in the treatment of developmental epileptic encephalopathy. [PDF]

Front Pediatr
Hu W, Li L, Zhao F, Zhang H, Zhang H.
europepmc   +1 more source

Hypsarrhythmia and infantile spasms [PDF]

, 1968
Almy, Gary Lee
core   +1 more source