Results 131 to 140 of about 2,873 (179)

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

Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case. [PDF]

Case Rep Radiol
Johnson CR, Bukhari SMA, Gupta A.
europepmc   +1 more source

Fetal malformations of cortical development: review and clinical guidance. [PDF]

Brain
Russ JB, Agarwal S, Venkatesan C, Scelsa B, Vollmer B, Tarui T, Pardo AC, Lemmon ME, Mulkey SB, Hart AR, Nagaraj UD, Kuller JA, Whitehead MT, Cohen JL, Gebb JS, Glenn OA, Norton ME, Gano D.   +17 more
europepmc   +1 more source

Ketogenic drug tricaprilin (CER-0001) for the treatment of refractory infantile epileptic spasms: a phase 1/2a study. [PDF]

Front Pediatr
Cantillon M, Chen S, McIntyre N, Henderson ST, Riney K, Chan DWS, Lawson J, Chow L.   +7 more
europepmc   +1 more source

Dyke-Davidoff-Masson syndrome - A dainty spectrum with a diligent diagnosis. [PDF]

J Family Med Prim Care
Palani A, Periyanayagam A, James S, Thangavel R, Sudarsan A.   +4 more
europepmc   +1 more source

Hemimegalencephaly

, 2015
openaire   +1 more source

PTEN hamartoma tumor syndrome in children: Identification of recurrent mutations, an unpublished variant and a case of cerebral cortical dysplasia co-occurring with pleuropulmonary blastoma. Review of PTEN-related malformations of cortical development

Csenki M, Kalmár T, Zombori T, Kuthi L, Vedelek V, Gábor MK, Kóbor J, Sztriha L.   +7 more
europepmc   +1 more source

Hemimegalencephaly - neonate

, 2020
openaire   +1 more source

Functional hemispheric disconnection procedures for chronic epilepsy: history, indications, techniques, complications and current practice in Europe. A consensus statement on behalf of the EANS functional neurosurgery section. [PDF]

Brain Spine
Schijns OEMG, Delev D, von Lehe M, van Roost D, Rössler K, Theys T, Auer C, Blauwblomme T, Budke M, Campos AR, Canto SC, Clusmann H, Dorfer C, Dorfmüller G, Egge A, Eröss L, Ferrand-Sorbets S, Giordano F, Honegger J, Isler C, Ivanovic J, Kalbhenn T, Karppinen A, Krayenbühl N, van Lanen RHGJ, Marras CE, Mavridis I, Nilsson D, Onken J, Raftopoulos C, Roth J, Rumia J, Sauvigny T, Scavarda D, Schaller K, Scheiwe C, Schuind S, Seromenho-Santos A, Fountas K.   +38 more
europepmc   +1 more source

Yield of Genetic Testing in Pediatric Cardiomyopathies: Implications for Novel Therapeutic Options. [PDF]

Mol Genet Genomic Med
Ballerini A, Girolami F, Gozzini A, Passantino S, Zampieri M, Marchi A, Tomberli A, Calabri GB, Spaziani G, Porcedda G, Bennati E, Favilli S, Olivotto I.   +12 more
europepmc   +1 more source