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Annals of Neurology
Resumen/Descripción – provisto por la editorial
No disponible.
Palabras clave – provistas por la editorial
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Disponibilidad
| Institución detectada | Período | Navegá | Descargá | Solicitá |
|---|---|---|---|---|
| No detectada | desde ene. 1977 / hasta dic. 2023 | Wiley Online Library |
Información
Tipo de recurso:
revistas
ISSN impreso
0364-5134
ISSN electrónico
1531-8249
País de edición
Estados Unidos
Cobertura temática
Tabla de contenidos
doi: 10.1002/ana.25166
Sleep and cognitive decline: A prospective nondemented elderly cohort study
Seung Wan Suh; Ji Won Han; Ju Ri Lee; Seonjeong Byun; Soon Jai Kwon; Sang Hoon Oh; Kyoung Hwan Lee; Guehee Han; Jong Woo Hong; Kyung Phil Kwak; Bong-Jo Kim; Shin Gyeom Kim; Jeong Lan Kim; Tae Hui Kim; Seung-Ho Ryu; Seok Woo Moon; Joon Hyuk Park; Jiyeong Seo; Jong Chul Youn; Dong Young Lee; Dong Woo Lee; Seok Bum Lee; Jung Jae Lee; Jin Hyeong Jhoo; Ki Woong Kim
Palabras clave: Neurology (clinical); Neurology.
Pp. 472-482
doi: 10.1002/ana.25222
The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
Nicolas Chatron; Rikke S. Møller; Neena L. Champaigne; Amy L. Schneider; Alma Kuechler; Audrey Labalme; Thomas Simonet; Lauren Baggett; Claire Bardel; Erik‐Jan Kamsteeg; Rolph Pfundt; Corrado Romano
; Johan Aronsson; Antonino Alberti; Mirella Vinci; Maria J. Miranda; Amy Lacroix; Dragan Marjanovic; Vincent des Portes; Patrick Edery; Dagmar Wieczorek; Elena Gardella; Ingrid E. Scheffer; Heather Mefford; Damien Sanlaville; Gemma L. Carvill; Gaetan Lesca
<jats:sec><jats:title>Objective</jats:title><jats:p>Cut homeodomain transcription factor CUX2 plays an important role in dendrite branching, spine development, and synapse formation in layer II to III neurons of the cerebral cortex. We identify a recurrent de novo <jats:italic>CUX2</jats:italic> p.Glu590Lys as a novel genetic cause for developmental and epileptic encephalopathy (DEE).</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>The de novo p.Glu590Lys variant was identified by whole‐exome sequencing (n = 5) or targeted gene panel (n = 4). We performed electroclinical and imaging phenotyping on all patients.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>The cohort comprised 7 males and 2 females. Mean age at study was 13 years (0.5–21.0). Median age at seizure onset was 6 months (2 months to 9 years). Seizure types at onset were myoclonic, atypical absence with myoclonic components, and focal seizures. Epileptiform activity on electroencephalogram was seen in 8 cases: generalized polyspike‐wave (6) or multifocal discharges (2). Seizures were drug resistant in 7 or controlled with valproate (2). Six patients had a DEE: myoclonic DEE (3), Lennox‐Gastaut syndrome (2), and West syndrome (1). Two had a static encephalopathy and genetic generalized epilepsy, including absence epilepsy in 1. One infant had multifocal epilepsy. Eight had severe cognitive impairment, with autistic features in 6. The p.Glu590Lys variant affects a highly conserved glutamine residue in the CUT domain predicted to interfere with CUX2 binding to DNA targets during neuronal development.</jats:p></jats:sec><jats:sec><jats:title>Interpretation</jats:title><jats:p>Patients with <jats:italic>CUX2</jats:italic> p.Glu590Lys display a distinctive phenotypic spectrum, which is predominantly generalized epilepsy, with infantile‐onset myoclonic DEE at the severe end and generalized epilepsy with severe static developmental encephalopathy at the milder end of the spectrum. Ann Neurol 2018;83:926–934</jats:p></jats:sec>
Pp. 926-934
doi: 10.1002/ana.26669
Intravenous Thrombolysis 4.5‐9 Hours After Stroke Onset – a Cohort Study from the
TRISP
Collaboration
Valerian L Altersberger; Gerli Sibolt; Lukas S Enz; Christian Hametner; Jan F Scheitz; Hilde Henon; Guido Bigliardi; Davide Strambo; Nicolas Martinez‐Majander; Lotte J Stolze; Mirjam R Heldner; Ilaria Grisendi; Dejana R Jovanovic; Yannick Bejot; Alessandro Pezzini; Ronen R Leker; Georg Kägi; Susanne Wegener; Carlo W Cereda; Georges Ntaios; Gian Marco De Marchis; Leo H Bonati; Marios Psychogios; Philippe Lyrer; Silja Räty; Marjaana Tiainen; Anke Wouters; François Caparros; Miriam Heyse; Hebun Erdur; Visnja Padjen; Marialuisa Zedde; Marcel Arnold; Paul J Nederkoorn; Patrik Michel; Andrea Zini; Charlotte Cordonnier; Christian H Nolte; Peter A Ringleb; Sami Curtze; Stefan T Engelter; Henrik Gensicke;
Palabras clave: Neurology (clinical); Neurology.
Pp. No disponible
doi: 10.1002/ana.26674
Connectivity Profile for Subthalamic Nucleus Deep Brain Stimulation in
Early‐Stage
Parkinson's Disease
Mallory L. Hacker; Nanditha Rajamani; Clemens Neudorfer; Barbara Hollunder; Simon Oxenford; Ningfei Li; Alice L. Sternberg; Thomas L. Davis; Peter E. Konrad; Andreas Horn; David Charles
Palabras clave: Neurology (clinical); Neurology.
Pp. No disponible