Telemedicine for Individuals with epilepsy: Recommendations from the International League Against Epilepsy Telemedicine Task Force.

Worldwide, People with Epilepsy (PWE) are confronted with several barriers to face-to-face consultations. These obstacles hamper appropriate clinical follow-up and also increase the treatment gap for Epilepsy. Telemedicine holds the potential to enhance management as follow-up visits for PWE are focused on more on clinical history and counselling rather than physical examination.

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients.

Objective: To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of mitochondrial diseases.

Methods: Clinical data from 27 patients with confirmed mtDNA pathogenic variants were obtained from a database of 89 patients with suspected mitochondrial disease, registered from 2014 to 2020. Clinical data, biochemical analysis, neuroimaging findings, muscle biopsy and molecular studies were analyzed.

A Prospective Study on Changes in Nutritional Status and Growth Following Two Years of Ketogenic Diet (KD) Therapy in Children with Refractory Epilepsy.

Introduction: Epilepsy is a neurological disorder characterized by an increased susceptibility to seizures. The ketogenic diet (KD) is currently the most important alternative non-pharmacological treatment. Despite its long history of clinical use, it is not clear how this diet affects longitudinal growth in children.

Ictal blinking, an under-recognized phenomenon: our experience and literature review.

Ictal blinking (IB) is a very rare disease manifesting as an epileptic motor event in children and adults. Until now it has not been included in any classification of focal seizures of the International League Against Epilepsy Commission. It could be unilateral or bilateral, isolated or in association with other motor manifestations such as limbs' clonus and spasms.

The ketogenic diet in two paediatric patients with refractory myoclonic status epilepticus.

Aim: We describe two patients with refractory myoclonic status epilepticus treated with the ketogenic diet.

Methods: Between May 1, 2014 and January 1, 2015, two patients who met the diagnostic criteria for refractory myoclonic status epilepticus, seen at our department, were placed on the ketogenic diet and followed for a minimum of six months.

Results: One patient with myoclonic epilepsy of unknown aetiology had a 75-90% seizure reduction, and the other with progressive encephalopathy associated with myoclonic epilepsy had a 50% seizure reduction.

Ketogenic diet in patients with epileptic encephalopathy with electrical status epilepticus during slow sleep.

Unlabelled: Epileptic encephalopathy with electrical status epilepticus during slow sleep (ESES) belongs to the group of epileptic encephalopathies that often prove refractory to AED treatment. The ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epileptic encephalopathies.

Purpose: In this retrospective study we assess the efficacy and tolerability of the KD in patients with ESES syndrome.

Panayiotopoulos syndrome and diffuse paroxysms as the first EEG manifestation at clinical onset: a study of nine patients.

To present a retrospective study of nine children with Panayiotopoulos syndrome associated with diffuse spikes and waves as the sole EEG manifestation at onset. Charts of children with typical clinical criteria of Panayiotopoulos syndrome, electroclinically followed between February 2000 and February 2012, were reviewed. Among 150 patients who met the electroclinical criteria of Panayiotopoulos syndrome, we identified nine children who presented with the typical clinical manifestations but who, on EEG, only had diffuse paroxysms at onset that continued along the course of the syndrome.

Encephalopathy with status epilepticus during sleep: unusual EEG patterns.

Purpose: To retrospectively analyze the electroclinical characteristics, etiology, treatment, and prognosis of patients with epileptic encephalopathy with status epilepticus during sleep (ESES) with unusual EEG features and to corroborate if this series of patients is part of the ESES syndrome.

Method: Charts of 17 patients with typical clinical manifestations of the ESES syndrome with focal ESES of non-REM sleep at onset and during the focal ESES phase, or bilateral synchronic and asynchronic ESES with a symmetric or asymmetric morphology, continuous or subcontinuous and sometimes multifocal paroxysms with or without slow-wave activity during slow sleep seen between 2000 and 2012 were analyzed.

Results: Mean patient follow-up from onset was 7.

Ketogenic diet in pediatric patients with refractory focal status epilepticus.

Unlabelled: The ketogenic diet (KD) has been used as an alternative treatment for patients with refractory status epilepticus (SE).

Purpose: In this retrospective study we assess the efficacy and tolerability of the KD in patients with refractory SE.

Methods: Between March 1, 2010 and January 1, 2014, 10 patients who met the diagnostic criteria of refractory SE seen at our department were placed on the KD and followed for a minimum of 6 months.

Ketogenic diet in patients with Lennox-Gastaut syndrome.

Purpose: The ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epilepsy. Lennox-Gastaut syndrome (LGS) belongs to the group of epileptic encephalopathies that often prove refractory to AED treatment. In this prospective study we assess the efficacy and tolerability of the KD in patients with LGS.

Landau-Kleffner syndrome: a study of 29 patients.

Purpose: The aim of the study was to retrospectively analyze the electroclinical features, etiology, treatment, and prognosis of 29 patients with Landau-Kleffner syndrome (LKS) with a long-term follow-up.

Methods: Inclusion criteria were a diagnosis of LKS with: (1) acquired aphasia or verbal auditory aphasia; (2) with or without focal seizures, secondarily generalized tonic-clonic seizures, absences, or atonic seizures.

Results: Mean follow-up was 12 years.

Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up.

Aim: We retrospectively analysed the electroclinical features, treatment, and outcome in patients with unilateral polymicrogyria (PMG), focussing on epileptic syndrome with or without encephalopathy, with status epilepticus during sleep (ESES) or continuous spikes and waves during slow sleep (CSWS) syndrome.

Methods: From June 1990 to December 2012, 39 males and 27 females, aged 5-26 years, were studied. We did not include patients with bilateral PMG or cases with unilateral PMG associated with other cerebral lesions.

Early-onset absence epilepsy aggravated by valproic acid: a video-EEG report.

Early-onset absence epilepsy refers to patients with absence seizures beginning before age 4 and comprises a heterogeneous group of epilepsies. Onset of absence seizures in the first year of life is very rare. We report a boy with absence seizures with onset at age 11 months, whose seizures increased in frequency after the introduction of valproic acid (VPA) treatment and substantially improved upon cessation of treatment.

Encephalopathy with hemi-status epilepticus during sleep or hemi-continuous spikes and waves during slow sleep syndrome: a study of 21 patients.

Purpose: To retrospectively analyze the electroclinical features, etiology, treatment, and prognosis of 21 patients with encephalopathy with hemi-status epilepticus during sleep (ESES) or hemi-continuous spikes and waves during slow sleep (CSWSS) syndrome.

Methods: Charts of 21 patients with hemi-ESES/CSWSS syndrome followed between 1997 and 2012 were analyzed. Inclusion criteria were: (1) Focal seizures or apparently generalized seizures and focal EEG epileptiform discharges; (2) Further occurrence of atypical absences, and myoclonic, atonic, and/or generalized seizures; (3) Cognitive impairment and/or behavioral disturbances; (4) Hemi-continuous spike-and-wave discharges during slow sleep in more than 85% of non-REM sleep at onset and throughout the ESES/CSWSS period.

Encephalopathy with status epilepticus during sleep or continuous spikes and waves during slow sleep syndrome: a multicenter, long-term follow-up study of 117 patients.

Purpose: To retrospectively analyze the electroclinical features, etiology, treatment and prognosis of 117 patients with encephalopathy with status epilepticus during sleep (ESES) or continuous spike and waves slow sleep (CSWSS) syndrome with a long-term follow-up.

Methods: Charts of 117 patients with ESES/CSWSS syndrome followed between 1990 and 2012 were analyzed. Inclusion criteria were: (1) focal seizures or apparently generalized seizures and focal EEG epileptiform discharges; (2) further occurrence of atypical absences, and myoclonic, atonic, and/or generalized seizures; (3) cognitive impairment and/or behavior disturbances; (4) continuous spike-and-wave discharges during slow sleep in more than 85% of non-REM sleep.

Electroclinical overlap of two types of epileptic encephalopathy occurring in the same children in a certain age period?

In this study, we describe three patients who each had an electroclinical overlap of two different epileptic encephalopathies (EE), with onset in a certain age period. Patient 1 had electroclinical features compatible with continuous spikes and waves during slow sleep (CSWSS) syndrome that changed into Lennox-Gastaut syndrome (LGS) (symptomatic, cause porencephalic cyst) at the age of 8.5 years.

Benign infantile seizures and paroxysmal dyskinesia: a well-defined familial syndrome.

Unlabelled: The aim of this study was to analyze the electroclinical features and evolution in patients with benign infantile seizures (BIS) associated with paroxysmal dyskinesia (PD).

Patients And Methods: Among 198 patients with BIS (78 of whom were familial cases), we evaluated 12 unrelated patients with BIS and PD seen at two pediatric neurology departments from January 1990 to February 2009.

Results: The patients were eight boys and four girls, one of whom was not a familial case.

Benign childhood seizure susceptibility syndrome: three case reports.

In this study, we describe three patients who each had two different forms of idiopathic focal epilepsiy. Two of these patients had electroclinical features compatible with Panayiotopoulos syndrome and benign childhood epilepsy with centro-temporal spikes (BCECTS), one of whom developed a particular electroclinical picture of atypical benign focal epilepsy and the other an atypical evolution characterized by verbal auditory agnosia and aphasia. The third patient had clinical and electroencephalographic features of BCECTS and of idiopathic childhood occipital epilepsy (Gastaut type) which evolved into electroclinical features of continuous spikes and waves during slow sleep (CSWS).

Nonpharmacologic treatments of Dravet syndrome: focus on the ketogenic diet.

We present an update of our experience with the ketogenic diet (KD) in patients with Dravet syndrome (DS) to evaluate the efficacy and tolerability and our short experience with vagus nerve stimulation (VNS) in the treatment of this syndrome. Between March 1, 1990 and May 31, 2007, 59 patients who met diagnostic criteria for DS were studied in our department. Twenty-four of them were placed on the KD and were followed up for a minimum of 2 years.

PEHO syndrome: a study of five Argentinian patients.

We describe two familial and three nonfamilial cases from Argentina, examined between February 1, 1990-July 31, 2008, who met the diagnostic criteria of progressive encephalopathy, peripheral edema, hypsarrhythmia, and optic atrophy syndrome. All five children were products of normal gestation, although one was premature. Birth was uneventful in all patients.

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases.

Purpose: Early onset absence seizures have been considered a rare heterogeneous group with a poor prognosis. Only few patients may be categorized into well-known syndromes. We have evaluated electroclinical features, evolution, and the nosologic boundaries of early onset absence seizures.