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Can J Neurol Sci 2018 Dec 17:1-7. Epub 2018 Dec 17.

1Division of Neurology,Krembil Brain Institute,University Health Network, Toronto Western Hospital,University of Toronto,Toronto, Ontario,Canada.

A patient with intractable epilepsy, previous right frontal resection, and active vagus nerve stimulation (VNS) developed new onset quasi-continuous twitching around the left eye. Electroencephalography showed no correlate to the orbicularis oculi twitches apart from myographic potentials at the left supraorbital and anterior frontal electrodes. Magnetoencephalography was performed using spatiotemporal signal space separation to suppress magnetic artifacts associated with the VNS apparatus. Read More

Mult Scler Relat Disord 2018 Dec 3;28:31-33. Epub 2018 Dec 3.

Department of Neurology, St Vincent's Hospital, 390 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia.

Secondary autoimmune disorders are a recognised complication of alemtuzumab treatment for multiple sclerosis. We report a case of autoimmune encephalitis manifesting as a polymorphic epilepsia partialis continua / status epilepticus seven months after the second course of alemtuzumab in a patient with previous autoimmune hypothyroidism and immune thrombocytopenic purpura. An MRI revealed multifocal cortical abnormalities and neuronal loss was evident on biopsy. Read More

Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.

Department of Neurosurgery, Hospital de Pediatría "Prof Dr Juan P Garrahan", Buenos Aires, Argentina.

The aim of this study was to analyse the electroclinical and imaging findings and outcome of patients with Rasmussen syndrome (RS) with atypical manifestations. We conducted a retrospective, descriptive study of 10 of 44 consecutive patients with RS with atypical features, followed between 1999 and 2017. Six patients were boys and four were girls. Read More

Eur J Med Genet 2018 Nov 27. Epub 2018 Nov 27.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. Electronic address:

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called "Neuronal Ceroid Lipofuscinosis 14" (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to visual loss, and progressive cortical and cerebellar atrophy).

Clinical Reports: We describe two new patients carrying two novel pathogenic mutations in the KCTD7 gene. Patient 1 (NM_153033. Read More

Ann Indian Acad Neurol 2018 Jul-Sep;21(3):225-227

Department of Medical Imaging, Taipei Medical University Hospital, Taipei, Taiwan.

Epilepsia partialis continua (EPC) is a rare epileptic syndrome, presenting as continuous focal motor seizures for a period of minutes, hours, or days. EPC may develop in patients with cerebral cortical lesions and occasionally may develop in patients with metabolic disorders, such as nonketotic hyperglycemia (NKH). Here, we report a case of EPC following NKH, showing an unusual magnetic resonance imaging (MRI) finding of concurrent hypointensity on susceptibility-weighted image (SWI) and T2-weighted image (T2WI) with leptomeningeal and cortical enhancement, which have never been reported. Read More

Can J Neurol Sci 2018 Nov 24;45(6):703-706. Epub 2018 Sep 24.

2Department of Neurology,Franz Tappeiner Hospital,Merano,Italy.

Zhonghua Bing Li Xue Za Zhi 2018 Sep;47(9):676-681

Department of Pathology, Beijing Haidian Hospital/Haidian Section of Peking University Third Hospital, Beijing 100080, China.

To investigate the clinicopathologic features of Rasmussen syndrome (RS) and to raise awareness of this rare disease. Clinicopathologic data of 4 cases of RS were retrospectively analyzed at Beijing Haidian Hospital from 2008 to 2016. The clinical manifestations included epilepsia partialis continua and progressive neurologic deficits in all patients. Read More

J Neuroimmunol 2018 Oct 24;323:119-124. Epub 2018 Jul 24.

Department of Neurology, Sir Charles Gairdner Hospital, Nedlands, Australia. Electronic address:

Antibodies against glutamic acid decarboxylase (GAD) are reported in association with numerous neurological conditions including temporal lobe epilepsy and limbic encephalitis. We report a case of Anti-GAD-Antibody associated encephalitis presenting with epilepsia partialis continua (EPC) progressing to a fulminant encephalopathy preferentially affecting the frontal lobes associated with coma and refractory status epilepticus. The abnormalities identified on MRI included marked bilateral frontal lobe involvement which has not been reported in other auto-immune encephalitides and may be specific for Anti-GAD-Antibody associated encephalitis. Read More

J Neurovirol 2018 Dec 5;24(6):773-775. Epub 2018 Sep 5.

Clinical Unit of Neurology, Department of Medicine, Surgery and Health Sciences, University Hospital and Health Services of Trieste, University of Trieste, Trieste, Italy.

Epilepsia partialis continua (EPC) is a rare entity, first described in 1894 by Koževnikov, as a variant of simple focal motor status epilepticus. EPC is most frequently characterized by motor symptoms, but as recently described, non-motor manifestations may occur, such as somatosensory symptoms or aura continua. EPC in adults has been attributed to various etiologies: infectious, vascular, neoplastic, and metabolic. Read More

Case Rep Neurol 2018 May-Aug;10(2):193-198. Epub 2018 Jul 24.

Division of Neuroradiology, Department of Radiology, Chi-Mei Medical Center, Tainan, Taiwan, ROC.

We present the case of a middle-aged man suffering from epilepsia partialis continua 3 weeks before the start of cognition decline, visual disturbance, and pyramidal dysfunction. The epilepsia partialis continua was difficult to control, and the underlying cause was uncertain even after thorough surveys for infection, inflammation, autoimmunity, and neoplasm. However, progressive signal intensity changes were noted over the involved cortical gyri, bilateral caudate, and putamen on serial magnetic resonance diffusion-weighted images, which were compatible with sporadic Creutzfeldt-Jacob disease. Read More

Epileptic Disord 2018 Aug;20(4):301-312

Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University, Salzburg Austria, Centre for Cognitive Neuroscience Salzburg, Austria, Department of Public Health Technology Assessment, UMIT - University for Health Sciences, Medical Informatics and Technology, Hall.i.T., Austria.

Epilepsia partialis continua (EPC) is a rare form of focal status epilepticus. We describe a 22-year-old woman with EPC manifesting with isolated toe movements, prevalent over the left side and initially misdiagnosed as psychogenic, clinically almost indistinguishable from those observed in "painful legs and moving toes syndrome". The continuous involuntary movements with EMG correlates of twitches lasting <100 ms, the sharp waves over fronto-central regions on EEG, and the marked asymmetry in somatosensory evoked potentials with higher cortical amplitude over the right side following peripheral stimulation over the left foot confirmed the epileptic nature of the symptoms, leading to the diagnosis of EPC. Read More

Clin Neurol Neurosurg 2018 Aug 9;171:143-150. Epub 2018 Jun 9.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Turkey.

Objective: Epilepsia partialis continua (EPC) is a special form of cortical epilepsy. Several studies have described the ictal and interictal electroencephalography (EEG) findings in patients with EPC; however, lateralizing and localizing values of these findings have been evaluated rarely. This study investigated the correlation of semiologic and EEG findings, and outcomes in patients with EPC. Read More

Epileptic Disord 2018 Jun;20(3):189-194

Department of Neurology, Donostia University Hospital, San Sebastián, Spain.

Opercular myoclonic-anarthric status epilepticus (OMASE) is a rare form of epilepsia partialis continua presenting as fluctuating dysarthria, or even anarthria. The condition is caused by an epileptogenic lesion involving the opercular cortex of either hemisphere. Speech impairment is secondary to bilateral epileptic activity affecting the glossopharyngeal muscles. Read More

Neurologia 2018 Jun 8. Epub 2018 Jun 8.

Servicio de Neurología, Hospital Universitario 12 de Octubre, Madrid, España.

BMJ Case Rep 2018 Jun 8;2018. Epub 2018 Jun 8.

Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

We report a 1-year follow-up of a young woman with anti-N-methyl-D-aspartate receptor encephalitis. Management of autoimmune encephalitis remains challenging as objective and clinically relevant biomarkers are sought, which allow for the monitoring of treatment response. While further investigation is required, we believe that this case highlights the importance of following a comprehensive neuropsychological profile as a clinically relevant biomarker to guide therapeutic decision-making. Read More

Epilepsia Open 2018 03 11;3(1):103-108. Epub 2018 Jan 11.

Department of Clinical Neurophysiology Royal Victoria Infirmary Newcastle United Kingdom.

Focal status epilepticus in -related mitochondrial disease is highly refractory to pharmacological agents, including general anesthesia. We report the challenges in managing a previously healthy teenager who presented with de novo epilepsia partialis continua and metabolic stroke resulting from the homozygous p.Ala467Thr mutation, the most common pathogenic variant identified in the Caucasian population. Read More

Indian J Med Res 2017 Nov;146(Supplement):S1-S7

Department of Neurology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

Background & Objectives: Hyperosmolar hyperglycaemic state (HHS) is a medical emergency, but there is a paucity of studies reporting the spectrum of neurological manifestations of HHS. We, therefore, report the neurological spectrum, triggering factors and outcome of HHS in general neurology practice.

Methods: The records of the patients with HHS were extracted from computerized hospital information system and those managed currently were prospectively included. Read More

Childs Nerv Syst 2018 Jun 14;34(6):1267-1269. Epub 2018 Feb 14.

Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, 1800 Orleans Street, Zayed Tower, Room 4174, Baltimore, MD, 21287, USA.

Introduction: Bottom-of-sulcus focal cortical dysplasias are an under recognized, surgically treatable cause of focal epilepsy. Resection can dramatically reduce the seizure burden for children with refractory epilepsy, or eliminate seizures altogether.

Material And Methods: We report the case and present the results of multimodality evaluation of a 15-year-old young man who presented with long-standing partial epilepsy affecting his right leg, which over the years became refractory to therapy. Read More

Front Neurol 2017 24;8:750. Epub 2018 Jan 24.

Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China.

mutation-related epileptic syndrome includes a wide spectrum of epilepsies. We describe a case with a homozygous mutation inherited from consanguineous parents. The patient manifested epilepsia partialis continua (EPC) and rare secondary generalized tonic-clonic seizure without intellectual disability or developmental delay. Read More

Clin Case Rep 2018 01 5;6(1):136-142. Epub 2017 Dec 5.

Department of Neurology Renown Institute for Neuroscience, Renown Health University of Nevada Reno Nevada 89502.

We report a case of Hashimoto's encephalopathy (HE), who presented with epilepsia partialis continua (EPC) and a frontal lobe lesion. The diagnosis of HE remained elusive until the serum thyroid antibodies became positive 7 months after the onset of EPC. The histopathology of this frontal lesion showed nonvasculitic inflammation. Read More

Hum Mutat 2018 Apr 7;39(4):563-578. Epub 2018 Feb 7.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, 'Bambino Ges.' Children's Research Hospital, Rome, Italy.

In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl-tRNA synthetases (mt-aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi-allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA-synthetase, were first reported in a patient with psychomotor delay and epilepsia partialis continua associated with an oxidative phosphorylation (OXPHOS) Complex I defect, before being described in a patient with a neonatal form of encephalocardiomyopathy. Here we provide a detailed genetic, clinical, and biochemical description of 13 patients, from nine unrelated families, harboring VARS2 mutations. Read More

Epilepsy Behav 2018 02 15;79:244-246. Epub 2017 Dec 15.

Epilepsy Program, Division of Population Health, National Center for Chronic Disease Prevention and Health Promotion, CDC, Mail Stop F-78, 4770 Buford Hwy, 30341 GA, United States.

The distribution of epilepsy types varies by age, etiology, provider diagnostic capabilities, and assessment criteria. No recent US study has examined the distribution of epilepsy types in a large, population-based sample of people with epilepsy. We used MarketScan data from January 1, 2010 through September 30, 2015, to estimate the proportion of epilepsy types among all (N=370,570) individuals diagnosed with epilepsy. Read More

Neurology 2017 12;89(23):e274-e275

From the Department of Neurology and Clinical Neurophysiology (N.C.L., K.M.G., A.S., M.D.K.), Children's University Hospital; and Academic Centre on Rare Diseases (M.D.K.), School of Medicine and Medical Science, University College Dublin, Ireland.

Epilepsy Behav Case Rep 2017 27;8:105-107. Epub 2017 Sep 27.

Multidisciplinary Epilepsy Unit, Department of Neurology, Hospital Universitario y Politécnico La Fe, 106 Fernando Abril Martorell Ave, 46026, Valencia, Spain.

Perampanel is the first-in-class selective and noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antagonist. It is authorized in the U.S. Read More

Can J Neurol Sci 2018 01 2;45(1):106-108. Epub 2017 Oct 2.

2Department of Pathology,Western UniversityLondon,Ontario,Canada.

J Neuroradiol 2018 Feb 18;45(1):6-14. Epub 2017 Sep 18.

Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum 695011, Kerala, India. Electronic address:

Background And Purpose: The study evaluated the utility of arterial spin labeling (ASL) perfusion imaging in Rasmussen's encephalitis (RE).

Material And Methods: The hospital electronic database was searched using the search words "encephalitis," "autoimmune encephalitis" and "Rasmussen's encephalitis" for the period of 1 Jan 2015 to 31 Jan 2017. Clinically diagnosed cases of RE for which epilepsy protocol magnetic resonance imaging (MRI) with perfusion imaging (ASL) performed on a 3T scanner were retrieved. Read More

J Pediatr Neurosci 2017 Apr-Jun;12(2):203-205

Department of Paediatric Neurology, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.

Epilepsia partialis continua (EPC) is a form of focal status epilepticus often refractory to anticonvulsant therapy. A wide range of abnormalities such as inflammatory, vascular, metabolic-toxic, developmental malformations, and neoplasia cause EPC. Linear nevus syndrome with hemimegalencephaly is one of the developmental malformations that can present with EPC. Read More

Epilepsy Behav 2017 10 15;75:158-164. Epub 2017 Sep 15.

Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Turkey. Electronic address:

Objective: The objective of this study was to determine the predictors of outcomes and refractoriness in status epilepticus (SE).

Methods: This is a prospective study of 59 adult patients with SE who were admitted to the Emergency Department between February 2012 and December 2013. The effects of clinical, demographic, and electrophysiologic features of patients with SE were evaluated. Read More

Epilepsy Behav 2017 09 18;74:119-123. Epub 2017 Jul 18.

Department of Neurology, Liverpool Hospital, NSW, Australia; Griffith University, Southport, Queensland, Australia; South Western Sydney Clinical School, University of NSW, Australia; Strategic Health Evaluators, Sydney, NSW, Australia. Electronic address:

Rasmussen's encephalitis (RE) is a rare unilateral inflammatory brain disorder that causes progressive neurocognitive deterioration and refractory epilepsy including epilepsia partialis continua (EPC). We describe a patient with a unique presentation, where right upper limb EPC due to RE began within 2weeks of a concussive left frontal head injury, in a 36-year-old female without other identifiable etiology, no prior neurological deficit nor suggestion of intracranial pathology or infection, and no preceding seizures. The diagnosis of RE followed extensive investigation, excluding confounding diagnoses, with supportive histopathology, and her EPC has proven refractory to treatment. Read More

J Clin Neurosci 2017 Oct 4;44:207-209. Epub 2017 Jul 4.

Department of Neurology, Xijing Hospital, Fourth Military Medical University, Xi'an 710032, China. Electronic address:

Epilepsia partialis continua (EPC) is a rare variant of epilepsy. Cases from China are rare. We present a case series of seven patients to analyze its clinical features, imagining findings, etiology, drug use, and long-term outcome in a single epilepsy center. Read More

Arq Neuropsiquiatr 2017 Jun;75(6):405-406

Universidade Federal do Rio de Janeiro, Faculdade de Medicina.

Epilepsy Behav 2017 08 14;73:77-82. Epub 2017 Jun 14.

Division of Neurology, CHUM Notre-Dame, Université de Montréal, Montreal, Canada. Electronic address:

Objective: The precuneus is a complex and highly connected structure located in the medial portion of the superior parietal lobule. The clinical presentation of precuneal epilepsy is poorly characterized, mostly because these patients have seldom been distinguished from those with other types of parietal lobe epilepsy. The present study aims to improve the understanding of precuneal epilepsy by detailing its clinical features and surgical outcomes. Read More

Autoimmun Rev 2017 Aug 29;16(8):803-810. Epub 2017 May 29.

APHP Pitie-Salpêtrière-Charles-Foix, Epileptology Unit, Paris, France; Brain and Spine Institute (INSERM UMRS1127, CNRS UMR7225, UPMC), Paris, France.

Rasmussen Encephalitis (RE) is classically described as a childhood encephalopathy due to a unilateral inflammation of the cerebral cortex with a presumed immune-mediated pathophysiological basis. Unusual variant forms, including adolescent and adult-onset RE have been described but there is still a doubt whether these atypical cases correspond to classical RE patients. To review evidence, a systematic PubMed search was conducted to retrieve papers addressing late onset RE to assess (i) the positivity rate of classical childhood-onset diagnostic criteria for RE in late-onset RE, (ii) the specific clinical and radiological features that could help earlier diagnosis and therapeutic interventions, (iii) the arguments for an autoimmune pathophysiology including (iiia) the association with autoimmune markers or diseases and (iiib) the effects of immunomodulatory or immunosuppressive treatments. Read More

Eur J Neurol 2017 07 12;24(7):929-934. Epub 2017 May 12.

Department of Neurosciences and Mental Health (Neurology), Hospital de Santa Maria - CHLN, Lisbon, Portugal.

Background And Purpose: Although cerebrovascular disorders are the main cause of epilepsia partialis continua (EPC) in adulthood, the frequency of EPC after stroke is unknown. The aim was to prospectively ascertain its frequency 1 year after an ischaemic stroke.

Methods: This was a prospective study of consecutive acute anterior circulation ischaemic stroke patients, previously independent, with an admission National Institutes of Health Stroke Scale score ≥4, an acute ischaemic lesion on imaging and no previous epileptic seizures. Read More

Epilepsy Behav Case Rep 2017 1;7:45-48. Epub 2017 Mar 1.

Department of Clinical Neurological Sciences, Western University, Room B10-106, 339 Windermere Road, London, ON N6A 5A5, Canada.

Hemimegalencephaly (HME) is a rare disorder of cortical development with overgrowth of one cerebral hemisphere. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug-resistant epilepsy is often treated with a hemispherectomy. Read More

Seizure 2017 Apr 6;47:71-73. Epub 2017 Mar 6.

Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. Electronic address:

Mutations in the TBC1D24 gene (MIM 613577) cause familial infantile myoclonic epilepsy (FIME; 605021) and early infantile epileptic encephalopathy-16 (EIEE16; 615338), both inherited with an autosomal recessive trait. The TBC1D24 gene encodes a member of the TBC family domain proteins, involved in cell signaling and oxidative stress resistance. We studied, by a Next Generation Sequencing (NGS) target re-sequencing gene approach, the DNA of a 5 year-old girl, affected by recurrent attacks of Alternating Hemiplegia (AH) and by recurrent episodes of Epilepsia Partialis Continua (EPC). Read More

Epilepsy Behav Case Rep 2017 5;7:24-27. Epub 2016 Dec 5.

Department of Neurosurgery, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

A 7-year-old previously healthy girl presented with a left-sided focal seizure without impaired consciousness and subsequently developed epilepsia partialis continua. Initial MRI was normal, and the subsequent images only showed a focal T2/FLAIR hyperintense area without cortical atrophy. She was diagnosed with Rasmussen syndrome by pathology and promptly treated with functional hemispherotomy. Read More

Brain Dev 2017 Jun 21;39(6):506-514. Epub 2017 Feb 21.

Department of Pediatrics, Peking University First Hospital, No. 1, Xi'anmen Street, Xicheng District, Beijing 100034, China. Electronic address:

Objective: Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiological associations.

Methods: We retrospectively reviewed 57 children diagnosed with EPC in our department over last ten years. Read More

Seizure 2017 Jan 18;44:74-80. Epub 2016 Oct 18.

Danish Epilepsy Centre, Dianalund, Denmark; Serviço de Neurologia, Departamento de Clínica Médica, Hospital Universitário, Universidade Federal de Santa Catarina (UFSC), Florianópolis, SC, Brazil. Electronic address:

Epilepsia partialis contina (EPC) in a narrow definition is a variant of simple focal motor status epilepticus in which frequent repetitive muscle jerks, usually arrhythmic, continue over prolonged periods of time. In a broader definition (used in this review) it also includes non-motor manifestations otherwise known as aura continua. EPC may occur as a single episode, repetitive episodes, it may be chronic progressive or non-progressive. Read More

Neurology 2017 01;88(1):108-109

From St. Stephen's Hospital (S.S., D.N., G.M., S.P., C.S., V.A.), New Delhi; Fortis Malar Hospital (D.N., V.A.), Adayar, Chennai; and Metropolis Labs (S.P., C.S.), Mumbai, India.

Korean J Pediatr 2016 Nov 30;59(Suppl 1):S133-S138. Epub 2016 Nov 30.

Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.

Anti--methyl D-aspartate receptor (anti-NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. Read More

Ochsner J 2016 ;16(4):548-550

Department of Obstetrics and Gynecology, Emory University School of Medicine, Atlanta, GA.

Background: Cervical cancer is a leading cause of morbidity and mortality in women, but cerebral metastasis from cervical carcinoma is a rare event with a reported incidence of 0.57%.

Case Report: We describe a case of brain metastasis from primary cervical adenocarcinoma with several distinct features. Read More

Brain Dev 2017 04 30;39(4):365. Epub 2016 Nov 30.

University of Tunis El Manar, Genomics Platform, Pasteur Institute of Tunis, Tunisia.

Pediatr Neurol 2017 01 11;66:104-107. Epub 2016 Oct 11.

Pediatric Neurology, Cohen Children's Medical Center, New Hyde Park, New York.

Background: N-methyl-D-aspartate (NMDA) receptor encephalitis is an immune-mediated condition that has a broad spectrum of manifestations, including seizures, coma, psychosis, and focal neurological deficits. Although usually a diffuse process, unihemispheric involvement mimicking early stages of Rasmussen encephalitis can occur. Rasmussen's encephalitis is a unique syndrome characterized by progressive hemiplegia, drug-resistant focal epilepsy, cognitive decline, and hemispheric brain atrophy contralateral to the hemiplegia. Read More

Epileptic Disord 2016 Dec;18(4):391-398

Unitat d'Epilèpsia.

To describe the semiological features in patients suffering with Epilepsia Partialis Continua (EPC), also referred as Kozhevnikov syndrome and their relationship with aetiology, duration, and prognosis, as well as recurrence during follow-up. We analysed consecutive EPC patients diagnosed and followed in our centre over a seven-and-a half year period. We collected demographic and clinical data, along with neuroimaging and EEG recordings. Read More

Zhonghua Er Ke Za Zhi 2016 Oct;54(10):786-788

Brain Dev 2017 Mar 11;39(3):261-265. Epub 2016 Oct 11.

Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.

Background: Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months.

Case Presentation: We report a 9year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome. Read More

Pediatr Neurol 2016 12 2;65:86-89. Epub 2016 Sep 2.

Department of Neurology, University of Utah, Salt Lake City, Utah.

Background: Opsoclonus-myoclonus syndrome is a rare clinical condition that has been associated with neuroblastoma. There are few reported examples of ANNA-1/anti-Hu antibodies in children with neuroblastoma and opsoclonus-myoclonus, all in children aged less than three years of age.

Methods: We describe the new onset of focal seizures without alteration of consciousness and opsoclonus-myoclonus in an 11-year-old girl with ANNA-1/anti-Hu positivity and a paraspinal ganglioneuroblastoma. Read More