Idiopathic focal epilepsies: the "lost tribe".

The term idiopathic focal epilepsies of childhood (IFE) is not formally recognised by the ILAE in its 2010 revision (Berg et al., 2010), nor are its members and boundaries precisely delineated. The IFEs are amongst the most commonly encountered epilepsy syndromes affecting children.

Management of epilepsy in resource-limited settings.

Epilepsy is one of the most common and widespread neurological disorders affecting over 65 million people worldwide. Although estimates vary considerably, the annual incidence is considered to be almost 50 per 100,000 and prevalence around 700 per 100,000. It is thought, however, that more people are affected in low- and middle-income countries where resources to improve the care for people with epilepsy are limited.

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.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.

Idiopathic focal epilepsy (IFE) with rolandic spikes is the most common childhood epilepsy, comprising a phenotypic spectrum from rolandic epilepsy (also benign epilepsy with centrotemporal spikes, BECTS) to atypical benign partial epilepsy (ABPE), Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS). The genetic basis is largely unknown. We detected new heterozygous mutations in GRIN2A in 27 of 359 affected individuals from 2 independent cohorts with IFE (7.

[Differential diagnoses of West syndrome].

This study describes the clinical and electroencephalographic characteristics of epileptic spasms, and more especially those that occur during the first two years of life (infantile spasms). West syndrome has been clearly defined as the association between infantile spasms with an electroencephalographic pattern of hypsarrhythmia. Although intellectual deficit appears in almost all cases in which infantile spasms are not controlled with medication, this is a developmental aspect of the condition and not a manifestation that must necessarily be present in order to define the syndrome.

Idiopathic focal epilepsies.

In this chapter we include a series of epilepsies with onset in pediatric age characterized by focal seizures, idiopathic etiology, normal psychomotor development, and a benign course related to the spontaneous remission of seizures without sequelae. These entities are age-dependent and seizures tend to disappear spontaneously. For these reasons often the drug treatment is not necessary.

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Objective: Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane protein) as the gene causing infantile convulsions (IC) with paroxysmal kinesigenic dyskinesia (PKD) (PKD/IC syndrome, formerly ICCA). There is interfamilial and intrafamilial variability and the patients may have IC or PKD. Association of IC with hemiplegic migraine (HM) has also been reported.

[Genetic etiologies associated with severe epilepsies in infancy].

This is an update on severe epilepsies in infancy that are associated with genetic etiologies, either chromosomal abnormalities or gene mutations. These severe epilepsies may present the clinical and electroencephalographic phenotype of the so called epileptic encephalopathies, although a significant number of cases do not comply with the criteria to be included among the already known categories, as classified by the International League Against Epilepsy. Several chromosomal abnormalities, with or without a characteristic physical phenotype, are associated with epileptic encephalopathies in infants.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families.

Sulthiame add-on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES).

Purpose: In children with symptomatic or idiopathic focal epilepsies, their disease may evolve into an epileptic encephalopathy related to continuous spike and wave during slow sleep (CSWS) or electrical status epilepticus during slow sleep (ESES). ESES syndrome implies serious risks of neuropsychologic impairment, and its treatment has frequently been disappointing. The aim of this study is to present our experience using sulthiame as add-on treatment in 53 patients with ESES syndrome that was refractory to other antiepileptic drugs (AEDs).

[Assessment of attention deficit hyperactivity: SNAP-IV scale adapted to Argentina].

Objective: Assess the usefulness of the SNAP-IV scale as an instrument for detecting attention deficit hyperactivity disorder (ADHD) in Argentine children aged 4 to 14 years.

Methods: The SNAP-IV scale was adapted and administered to a group of 1 230 schoolchildren in the province of Buenos Aires, Argentina. The diagnosis was determined with the clinical control, based on the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition.

Idiopathic childhood occipital epilepsy of Gastaut: a review and differentiation from migraine and other epilepsies.

The purpose of this review is to provide guidance for appropriate diagnosis and management of idiopathic childhood occipital epilepsy of Gastaut. The typical clinical features are visual seizures that typically consist of brief elementary visual hallucinations, which are mainly multicolored and circular. Ictal blindness and deviation of the eyes are also common symptoms.

Benign infantile seizures with mild gastroenteritis: study of 22 patients.

Purpose: To analyze the electroclinical features, aetiology and outcome in patients with normal neurological examination and psychomotor development who presented seizures during a mild gastroenteritis (MG).

Patients And Methods: Evaluation of the clinical charts of 22 patients who were assessed in the Neurology Department, Hospital Nacional de Pediatría Prof. Dr.

Atypical rolandic epilepsy.

Typical benign rolandic epilepsy (BRE) is a frequent and well-delineated epileptic syndrome in childhood. Mild cognitive and behavioral difficulties are increasingly recognized in the course of BRE and should not be considered as atypical features. Atypical features are recognized on electroclinical grounds.

A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome?

Purpose: Eyelid myoclonia and absences (EMA) induced by eye closure associated with brief, fast, and generalized paroxysms of polyspikes and waves was considered as an epileptic syndrome and a type of seizure as well. We analyzed the electroclinical features and evolution of EMA, and tried to determine if it represents a well-defined epileptic syndrome or a non-specific condition associated to other epilepsies.

Methods: Between June 1994 and June 2005, 63 patients who met diagnostic criteria of EMA were enrolled in the study and have been followed up to the present time.

The spectrum of benign myoclonus of early infancy: Clinical and neurophysiologic features in 102 patients.

Purpose: To redefine benign myoclonus of early infancy (BMEI) through analysis of clinical and neurophysiologic features in 102 patients with the aim to widen the spectrum of the syndrome, including a number of different clinical expressions of transient nonepileptic paroxysmal movements occurring in normal infants.

Methods: We recruited patients from one center in Argentina and two in Italy, including infants with normal neurologic and psychomotor development presenting with brief paroxysmal abnormal movements. Children with motor phenomena occurring only during sleep were excluded.

Childhood absence epilepsy and electroencephalographic focal abnormalities with or without clinical manifestations.

Purpose: We studied the electroclinical features and evolution in patients with childhood absence epilepsy (CAE) associated with electroencephalographic findings similar to those of benign focal epilepsies (BFE) with or without clinical manifestations compatible with these focal idiopathic syndromes.

Methods: Between June 1994 and June 2002, we found 203 (3.6%) patients with typical electroclinical features of CAE among 8285 children with epilepsy.

Epileptic encephalopathy with continuous spikes and waves during sleep in children with shunted hydrocephalus: a study of nine cases.

Purpose: We present a series of nine patients with early-onset hydrocephalus who had seizures and continuous spikes and waves during slow sleep (CSWS) associated with neurocognitive and motor deterioration.

Methods: Six boys and three girls aged 9-16 years (mean 11.3 years) were studied.

Migrating focal seizures in infancy: analysis of the electroclinical patterns in 17 patients.

We describe the electroclinical features, therapy, and long-term evolution of 17 patients with migrating focal seizures in infancy, and analyzed the charts of these patients seen between February 1985 and July 2005. Three different electroclinical patterns were recognized: (1) 8 cases with alternating simple focal motor seizures at onset. The ictal electroencephalography (EEG) pattern was characterized by recurrence of rhythmic focal spikes or rhythmic sharp activity in the Rolandic region; (2) 5 cases with complex focal seizures and progressive appearance of polymorphic delta- activity in 1 temporo-occipital region recurring independently; (3) 4 cases with focal complex seizures with motor manifestations.

Childhood occipital epilepsy of Gastaut: a study of 33 patients.

Purpose: To characterize the electroclinical features and evolution of childhood occipital epilepsy of Gastaut (COE-G).

Methods: Children with electroclinical criteria of COE-G were retrospectively identified and followed-up clinically, and with sleep and awake EEGs between 1990 and 2007.

Results: We identified 33 patients with COE-G.

Panayiotopoulos syndrome: a prospective study of 192 patients.

Objectives: To characterize the electroclinical features and evolution of Panayiotopoulos Syndrome (PS).

Methods: Children with electroclinical criteria of PS were prospectively identified and followed-up clinically, and with sleep and awake EEGs between February 1990 and 2006.

Results: We identified 192 patients with PS.

Autonomic status epilepticus in Panayiotopoulos syndrome and other childhood and adult epilepsies: a consensus view.

Purpose: To discuss and propose a definition of autonomic status epilepticus (SE), describe its clinical and EEG features, and review what is known about its epidemiology, pathophysiology, differential diagnosis, and management.

Methods: An international consortium of established researchers in the field was identified from their published work, agreed the purpose of the project, searched the literature, and, by use of e-mail communication, agreed the consensus document.

Results: Autonomic SE is a condition lasting at least 30 min and characterized by epileptic activity causing altered autonomic function of any type at seizure onset or in which manifestations consistent with altered autonomic function are prominent (quantitatively dominant or clinically important) even if not present at seizure onset.

Myoclonic status in nonprogressive encephalopathies: study of 29 cases.

Purpose: Myoclonic status in nonprogressive encephalopaties (MSNE) is characterized by recurrence of long-lasting myoclonic status appearing in infants and young children with nonprogressive encephalopathy. Here, we describe the electroclinical features and evolution of MSNE.

Methods: Between February 1, 1990 and July 31, 2005, 29 patients who met diagnostic criteria of MSNE were enrolled in the study at our department and have been followed up to the present time.

Dravet syndrome: a study of 53 patients.

Objective: We analyzed the electroclinical features, treatment and evolution of patients with Dravet syndrome (DS).

Material And Methods: We evaluated the clinical records of 53 patients that met the diagnostic criteria of DS according to the ILAE classification of 1989 seen at our center between February 1990 and December 2004.

Results: Thirty-four male and 19 female patients met the diagnostic criteria of DS.