Clinical commentaries

Clinical Commentaries are short reports of case studies that reflect truly novel findings.

Article à paraître

Age-dependent epileptic encephalopathy associated with an unusual co-occurrence of ZEB2 and SCN1A variants
Rosaria Nardello, Antonina Fontana, Giuseppe Donato Mangano, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Salvatore Mangano

A Chinese patient with epilepsy and WWOX compound heterozygous mutations
Jing He, Wenjing Zhou, Jie Shi, Bingqing Zhang, Haixiang Wang

Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation
Linh Tran, Jason Richards, Marie McDonald, Allyn McConkie-Rosell, Nicholas Stong, Joan Jasien, Vandana Shashi, Mohamad A. Mikati

Two mutations in the nicotinic acetylcholine receptor subunit A4 (CHRNA4) in a family with autosomal dominant sleep-related hypermotor epilepsy
Lisa Langenbruch, Saskia Biskup, Peter Young, Bianca Dräger, Gabriel Möddel

Volume 21, numéro 6, December 2019

Ictal asystole with intercurrent cardiopathy: a complex combination leading to delayed diagnosis

Dènahin Hinnoutondji Toffa, Raluca Pana, Dang Khoa Nguyen

Benign spasms of infancy: a mimicker of infantile epileptic disorders

Jamie Ghossein, Daniela Pohl

LGI-1 antibody encephalitis in a seven-year-old girl

Ali Mir, Ziyad Thani, Shahid Bashir, Hana Ayed, Raidah Albaradie

Epilepsia partialis continua and cortical motor control: insights into physiology

José L. Fernández-Torre, María Martín-García, Ernesto Orozco-Sevilla, David Mato-Mañas, Miguel A. Hernández-Hernández, Enrique Marco de Lucas

Defecation reflex seizures: a case report with long-term VEEG monitoring, neuroimaging and comprehensive epilepsy evaluation

Renata Pina Rocha, Eugenia Fialho Macedo, Regina Maria França Fernandes, Ursula Thomé, Américo C. Sakamoto, Lauro Wichert-Ana, Ana Paula Andrade Hamad

Volume 21, numéro 5, October 2019

Widespread frontal lobe cortical dysplasia or partial hemimegalencephaly: a continuum of the spectrum
Emilija Cvetkovska, Igor Kuzmanovski, Bojan Boskovski, Marija Babunovska, Kiteva Gordana Trencevska

Ictal kissing in a patient with right frontal lobe epilepsy

António Martins de Campos, Helena Rocha, José Manuel Dias da Costa, Ricardo Rego

Avoiding anaesthetics after multiple failed drug-induced comas: an unorthodox approach to management of new-onset refractory status epilepticus (NORSE)
James E. Eaton, Matthew T. Meriweather, Bassel W. Abou-Khalil, Hasan H. Sonmezturk

Self-stimulation in an adult misdiagnosed with focal epilepsy

Pedro Correia, Elizabeth Hartl, Soheyl Noachtar

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report

Paola Costa, Caterina Zanus, Flavio Faletra, Giulia Ventura, Giulia Maria di Marzio, Chiara Cervesi, Marco Carrozzi

Perampanel-induced hair curling in a patient with epilepsy associated with Pitt Hopkins syndrome
Yamile Calle-Lopez, Prakash Kotagal, Elia Pestana Knight

Stimulus-induced rhythmic, periodic ictal discharges during funduscopic examination in a patient with status epilepticus
Wei-Pin Hong, Tsang-Shan Chen, Chin-Wei Huang

Electrical stimulation of the cingulate elicits involuntary singing

Krzysztof Bujarski, Cathy Martin, Barbara Jobst, David Roberts, Andy Connolly

Paroxysmal non-epileptic events in infancy: five cases with typical features

Eszter Nagy, Katalin Hollody

Volume 21, numéro 4, August 2019

Deep brain stimulation of the anterior nucleus of the thalamus in a patient with super-refractory convulsive status epilepticus
Liu Yuan, Shaohui Zhang, Shuangshuang Liang, Na Liu, Xiaoman Yu, Shuli Liang

Bilateral synchronous gamma range firing of bulbar motor units during tonic seizures
Machiel Zwarts, Gerard van Erp, Hans van Dijk

Volume 21, numéro 3, June 2019

Abdominal epilepsia partialis continua in neurocysticercosis

Ajay Asranna, Sachin Sureshbabu, Gaurav Mittal, Sudhir Peter, Shobhana Chindripu, Leena Saini

Temporal encephalocele: a novel indication for magnetic resonance-guided laser interstitial thermal therapy for medically intractable epilepsy
Manish Ranjan, Angus A. Wilfong, Varina L. Boerwinkle, Randa Jarrar, P. David Adelson

Ictal atrial fibrillation during focal seizures: a case report and literature review
Luca M. Basili, Alessandra Morano, Jinane Fattouch, Martina Fanella, Mariarita Albini, Federica Avorio, Emanuele Cerulli Irelli, Mario Manfredi, Claudia Urani, Stefano Strano, Anna T. Giallonardo, Carlo Di Bonaventura

An embarrassing aura
Laura Lacazette, Olivier Boucher, Ismail Mohamed, Alain Bouthillier, Dang Khoa Nguyen

Selective deep brain stimulation in the substantia nigra reduces myoclonus in progressive myoclonic epilepsy: a novel observation and short review of the literature
Andrea di Giacopo, Christian R. Baumann, Martin Kurthen, Francesco Capecchi, Oguzkan Sürücü, Lukas L. Imbach

Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation
Mingyu Li, Zhaoyang Huang, Xiating Zhang, Yiran Duan, Yu Jia, Jing Ye, Yuping Wang

Clinical evolution and epilepsy outcome in three patients with CDKL5-related developmental encephalopathy
Pia Bernardo, Alessandro Ferretti, Gaetano Terrone, Claudia Santoro, Carmela Bravaccio, Salvatore Striano, Antonietta Coppola, Pasquale Striano

Surgical treatment of extra-hypothalamic epilepsies presenting with gelastic seizures

Holger Joswig, Patricia Rejas-Pinelo, Ana Suller, Richard S. McLachlan, David A. Steven

Volume 21, numéro 2, April 2019

Late adult-onset epilepsy in a patient with hemimegalencephaly
Seth A. Climans, Seyed M. Mirsattari

Multinodular and vacuolating neuronal tumour of the cerebrum: a rare neuroimaging incidentaloma or a potentially treatable cause of focal epilepsy?
Vladimir Baščarević, Aleksa T. Pejović, Aleksandar J. Ristić, Nikola Vojvodić, Savo Raičević, Tijana Đukić, Leposava Brajković, Dragoslav Sokić

Volume 21, numéro 1, February 2019

Epilepsy surgery in the first months of life: a large type IIb focal cortical dysplasia causing neonatal drug-resistant epilepsy
Ingo Borggraefe, Moritz Tacke, Lucia Gerstl, Steffen Leiz, Roland Coras, Ingmar Blümcke, Armin Giese, Birgit Ertl-Wagner, Christian T. Thiel, Soheyl Noachtar, Aurelia Peraud

A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype
Danielle A. Nolan, Baibing Chen, Anne Marie Michon, Emily Salatka, Daniel Arndt

Berardinelli-Seip syndrome and progressive myoclonus epilepsy
Domenico Serino, Chiara Davico, Nicola Specchio, Carlo Efisio Marras, Franco Fioretto

Absence status induced by lacosamide adjunctive therapy
Charles Ákos Szabó, Lola C. Morgan, Suzanne Sonnenberg, Kameel M. Karkar

Tonic status epilepticus in a centenarian woman

José L. Fernández-Torre, Javier Riancho, María Martín-García, Gonzalo Martínez-de las Cuevas, Pilar Bosque-Varela

Rasmussen syndrome: absence seizures may be induced by oxcarbazepine
Roberto H. Caraballo, Pedro Cachia, Gabriela Reyes Valenzuela, Agustin Calvo

Focal visual status epilepticus
Caspar Stephani, Walter Paulus, Niels K. Focke

A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome

Ettore Piro, Rosaria Nardello, Elena Gennaro, Antonina Fontana, Maurizio Taglialatela, Giuseppe Donato Mangano, Giovanni Corsello, Salvatore Mangano

Volume 20, numéro 6, December 2018

Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency
Kenneth A. Myers, Roy WR. Dudley, Myriam Srour

Cortical surface intracranial electrodes identify clinically relevant seizures missed on scalp EEG after traumatic intracranial hemorrhage
Chris R. Marcellino, Samuel Lapalme-Remis, Alejandro A. Rabinstein, Jamie J. Van Gompel, Gregory A. Worrell, Eric T. Payne, Sara Hocker

Faciobrachial dystonic seizures expressed as epileptic spasms, followed by focal seizures in anti-LGI1 encephalitis: a video-polygraphic study

Giuseppe d’Orsi, Tommaso Martino, Alessandra Lalla, Maria Teresa Di Claudio, Elena Carapelle, Carlo Avolio

Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome

Saber Jan, Ayako Ochi, Kota Kagawa, Peter Gill, Astrid Guttmann, Hiroshi Otsubo, Jeff Kobayashi

Under-reporting of nocturnal seizures using video-based home monitoring: a case study on the evaluation of the effect of vagal nerve stimulation

Stefano Peciola, Sari-Leena Himanen, Andrew Knight, Maxine Dibué-Adjei, Sirpa Rainesalo, Jukka Peltola

Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient
Lorenzo Muccioli, Laura Licchetta, Carlotta Stipa, Paolo Tinuper, Francesca Bisulli

KCNQ2 mutation in an infant with encephalopathy of infancy with migrating focal seizures
Alexander Freibauer, Kevin Jones

Volume 20, numéro 5, October 2018

Lacosamide for SCN2A-related intractable neonatal and infantile seizures
Flor-Hirsch Hadar, Heyman Eli, Livneh Ayelet, Reish Orit, Watemberg Nathan, Litmanovits Ita, Ben Sason Lilli Anat, Lev Dorit, Lerman Sagie Tally, Bassan Haim

Ictal SPECT reveals different epileptogenic zones in frontal lobe epilepsy
Pedro Correia, Christian Vollmar, Jan Rémi, Christian la Fougere, Soheyl Noachtar

Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation

Joao Peres, Francisco Antunes, Bilal Zonjy, Anna L. Mitchell, Samden D. Lhatoo

Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study

Erica Pironti, Francesca Granata, Francesca Cucinotta, Antonella Gagliano, Stephanie Efthymiou, Henry Houlden, Vincenzo Salpietro, Gabriella Di Rosa

Diaper changing-induced reflex seizures in CDKL5-related epilepsy

Roberta Solazzi, Elena Fiorini, Elena Parrini, Francesca Darra, Bernardo Dalla Bernardina, Gaetano Cantalupo