Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Alessandro Esposito; Antonio Falace; Matias Wagner; Moran Gal; Davide Mei; Valerio Conti; Tiziana Pisano; Davide Aprile; Maria Sabina Cerullo; Antonio De Fusco; Silvia Giovedì; Annette Seibt; Daniella Magen; Tilman Polster; Ayelet Eran; Sarah L Stenton; Chiara Fiorillo; Sarit Ravid; Ertan Mayatepek; Hava Hafner; Saskia Wortmann; Erez Y Levanon; Carla Marini; Hanna Mandel; Fabio Benfenati; Felix Distelmaier; Anna Fassio; Renzo Guerrini

doi:10.1093/brain/awz326

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

Alessandro Esposito
, Antonio Falace
, Matias Wagner
, Moran Gal
, Davide Mei
, Valerio Conti
, Tiziana Pisano
, Davide Aprile
, Maria Sabina Cerullo
, Antonio De Fusco
, Silvia Giovedì
, Annette Seibt
, Daniella Magen
, Tilman Polster
, Ayelet Eran
, Sarah L Stenton
, Chiara Fiorillo
, Sarit Ravid
, Ertan Mayatepek
, Hava Hafner

Saskia Wortmann (Co-author), Erez Y Levanon, Carla Marini, Hanna Mandel, Fabio Benfenati, Felix Distelmaier, Anna Fassio, Renzo Guerrini

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

43 Citations (Web of Science)

Original language	English
Pages (from-to)	3876-3891
Journal	BRAIN
Volume	142
Issue number	12
DOIs	https://doi.org/10.1093/brain/awz326
Publication status	Published - 2019

Keywords

GDP/GTP EXCHANGE PROTEIN
NEURONAL MIGRATION
SYNAPTIC VESICLES
VICI SYNDROME
RABCONNECTIN-3
ANNOTATIONS
DISORDERS
VARIANTS
BINDS
PUMP

Access to Document

10.1093/brain/awz326

Cite this

Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M. S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S. L., Fiorillo, C., Ravid, S., Mayatepek, E., ... Guerrini, R. (2019). Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. BRAIN , 142(12), 3876-3891. https://doi.org/10.1093/brain/awz326

Esposito, Alessandro ; Falace, Antonio ; Wagner, Matias et al. / Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. In: BRAIN 2019 ; Vol. 142, No. 12. pp. 3876-3891.

@article{71d01e606036424b8a2ac185bc9e3fde,

title = "Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.",

keywords = "GDP/GTP EXCHANGE PROTEIN, NEURONAL MIGRATION, SYNAPTIC VESICLES, VICI SYNDROME, RABCONNECTIN-3, ANNOTATIONS, DISORDERS, VARIANTS, BINDS, PUMP",

author = "Alessandro Esposito and Antonio Falace and Matias Wagner and Moran Gal and Davide Mei and Valerio Conti and Tiziana Pisano and Davide Aprile and Cerullo, \{Maria Sabina\} and \{De Fusco\}, Antonio and Silvia Gioved{\`i} and Annette Seibt and Daniella Magen and Tilman Polster and Ayelet Eran and Stenton, \{Sarah L\} and Chiara Fiorillo and Sarit Ravid and Ertan Mayatepek and Hava Hafner and Saskia Wortmann and Levanon, \{Erez Y\} and Carla Marini and Hanna Mandel and Fabio Benfenati and Felix Distelmaier and Anna Fassio and Renzo Guerrini",

note = "Wortmann: Department of Pediatrics, Paracelsus Medical University Salzburg, Austria",

year = "2019",

doi = "10.1093/brain/awz326",

language = "English",

volume = "142",

pages = "3876--3891",

journal = "BRAIN ",

issn = "0006-8950",

publisher = "Oxford Univ Press",

number = "12",

}

Esposito, A, Falace, A, Wagner, M, Gal, M, Mei, D, Conti, V, Pisano, T, Aprile, D, Cerullo, MS, De Fusco, A, Giovedì, S, Seibt, A, Magen, D, Polster, T, Eran, A, Stenton, SL, Fiorillo, C, Ravid, S, Mayatepek, E, Hafner, H, Wortmann, S, Levanon, EY, Marini, C, Mandel, H, Benfenati, F, Distelmaier, F, Fassio, A & Guerrini, R 2019, 'Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.', BRAIN , vol. 142, no. 12, pp. 3876-3891. https://doi.org/10.1093/brain/awz326

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. / Esposito, Alessandro; Falace, Antonio; Wagner, Matias et al.
In: BRAIN , Vol. 142, No. 12, 2019, p. 3876-3891.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course.

AU - Esposito, Alessandro

AU - Falace, Antonio

AU - Wagner, Matias

AU - Gal, Moran

AU - Mei, Davide

AU - Conti, Valerio

AU - Pisano, Tiziana

AU - Aprile, Davide

AU - Cerullo, Maria Sabina

AU - De Fusco, Antonio

AU - Giovedì, Silvia

AU - Seibt, Annette

AU - Magen, Daniella

AU - Polster, Tilman

AU - Eran, Ayelet

AU - Stenton, Sarah L

AU - Fiorillo, Chiara

AU - Ravid, Sarit

AU - Mayatepek, Ertan

AU - Hafner, Hava

AU - Wortmann, Saskia

AU - Levanon, Erez Y

AU - Marini, Carla

AU - Mandel, Hanna

AU - Benfenati, Fabio

AU - Distelmaier, Felix

AU - Fassio, Anna

AU - Guerrini, Renzo

N1 - Wortmann: Department of Pediatrics, Paracelsus Medical University Salzburg, Austria

PY - 2019

Y1 - 2019

KW - GDP/GTP EXCHANGE PROTEIN

KW - NEURONAL MIGRATION

KW - SYNAPTIC VESICLES

KW - VICI SYNDROME

KW - RABCONNECTIN-3

KW - ANNOTATIONS

KW - DISORDERS

KW - VARIANTS

KW - BINDS

KW - PUMP

U2 - 10.1093/brain/awz326

DO - 10.1093/brain/awz326

M3 - Original Article

C2 - 31688942

SN - 0006-8950

VL - 142

SP - 3876

EP - 3891

JO - BRAIN

JF - BRAIN

IS - 12

ER -

Esposito A, Falace A, Wagner M, Gal M, Mei D, Conti V et al. Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. BRAIN . 2019;142(12):3876-3891. doi: 10.1093/brain/awz326