Encephalopathie myoclonique precoce avec epilepsie

Bernardina, B. Dalla; Dulac, Olivier; Bureau, Michelle; Dravet, Charlotte; Zotti, Francesco Del; Roger, J

doi:10.1016/s0370-4475(82)80002-6

Cited by 8 publications

(5 citation statements)

References 6 publications

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“…The initial cases were described by Aicardi and Goutiéres [1978], with additional cases further described by Aicardi later [Aicardi, 1992]. Other cases have been reported since the first descriptions, referred to as early myoclonic encephalopathy [Lombroso, 1990] or by other syndromic designations, such as neonatal myoclonic encephalopathy [Vigevano et al, 1981], myoclonic encephalopathy with neonatal onset [Cavazzuti et al, 1978], neonatal epileptic encephalopathy with period EEG bursts [Martin et al, 1981], and early epileptic encephalopathy [Dalla Bernardina et al, 1982Bernardina et al, , 1983. Aicardi [1992] reviewed in detail the clinical expression of the ictal events in 39 cases.…”

Section: Early Myoclonic Encephalopathymentioning

confidence: 99%

“…As noted, there is some debate concerning the course of neurological impairment. Some suggest that there is a gradual deterioration or arrest of development with onset of the disorder [Dalla Bernardina et al, 1982Bernardina et al, , 1983, and others suggest that because of the severity of impairment at onset, subsequent development cannot be quantified [Aicardi, 1992].…”

Section: Early Myoclonic Encephalopathymentioning

confidence: 99%

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Neonatal seizures: Early-onset seizure syndromes and their consequences for development

Mizrahi

Clancy

2000

Ment. Retard. Dev. Disabil. Res. Rev.

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The determination of the developmental consequences of seizure syndromes in the neonate is based upon a number of factors which include: understanding of the clinical and electroencephalographic (EEG) features of neonatal seizures; current theories of the mechanisms by which neonatal seizures are generated; a current classification of neonatal seizures; potential etiologic and risk factors for seizures; and therapies. In addition, different seizure types, mechanisms of generation and etiologies of cerebral dysfunction may vary with conceptional age of the infant. There are a few distinct neonatal epileptic syndromes, which are rare, have been well described: benign neonatal convulsions; benign neonatal familial convulsions; early myoclonic encephalopathy and early infantile epileptic encephalopathy. The prognosis for the first two is relatively good while the outcome for the other two with encephalopathy is catastrophic. However, the majority of neonatal seizures occur as acute, reactive events in association with a wide range of etiologic factors. These etiologic factors, as well as those of the more traditionally defined syndromes, are the main determinants of eventual developmental outcome of neonates who experience seizures. Although experimental data suggests that some epileptic seizures eventually may have physiological, histological, metabolic, or behavioral consequences, there is yet direct evidence in humans to suggest that the occurrence of seizures themselves in the neonate is the main determinant of long‐term outcome. MRDD Research Reviews 2000;6:229–241. © 2000 Wiley‐Liss, Inc.

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Section: Early Myoclonic Encephalopathymentioning

confidence: 99%

Section: Early Myoclonic Encephalopathymentioning

confidence: 99%

Neonatal seizures: Early-onset seizure syndromes and their consequences for development

Mizrahi

Clancy

2000

Ment. Retard. Dev. Disabil. Res. Rev.

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“…Long-term prognosis for the seizure disorder is good, with less than 20% of patients suffering from persistent, usually rare, seizures (Bureau, 1995). However, the long-term prognosis for neuropsychological consequences is not nearly as good as was once thought.…”

Section: Discussionmentioning

confidence: 96%

“…Confusion with the electroencephalographic features of Lennox-Gastaut syndrome has also arisen in some reports, although the runs of slow spike-wave complexes seen in Angelman syndrome are usually rhythmic and signal non-convulsive status epilepticus (which has no specific features and is indeed indistinguishable from that seen in Lennox-Gastaut). In contrast, another epileptic syndrome, referred to as myoclonic status in non-progressive encephalopathies, has been appropriately recognised in a number of patients with Angelman syndrome (Dalla Bernardina et al, 1995). This syndrome is characterised by recurrent episodes of myoclonic status in patients who have pre-existing non-progressive neurological deficits including severe intellectual disability, axial hypotonia and ataxia (Dalla Bernardina et al, as cited in Roger et al, 1983) It also occurs in Wolff-Hirschhorn syndrome (4p-syndrome), neonatal encephalopathy and metabolic disorders such as nonketotic hyperglycinaemia.…”

Section: Seizure Typesmentioning

confidence: 99%

Epilepsy in Children - Clinical and Social Aspects

Gadže¹

2011

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Epilepsy is a neurological condition that accompanies mankind probably since its inception. About 400 years before Christ, the disease was already known by Hippocrates, who wrote the book "On The Sacred Disease", in which he refuted the idea that the upheaval was the work of spirits and wisely related it to the brain. This concept was not fully accepted until modern era (John Hughlings Jackson, 1873). Classically, epilepsy is defined as a chronic condition characterized by an enduring propensity to generate seizures, which are paroxysmal occurring episodes of abnormal excessive or synchronous neuronal activity in the brain. According to WHO epilepsy accounts for about 1% of the total burden of disease worldwide, about the same as breast cancer in women and lung cancer in men.Out of all brain disorders, epilepsy is the one that offers a unique opportunity to understand normal brain functions as derived from excessive dysfunction of neuronal circuits, because the symptoms of epileptic seizures are not the result of usual loss of function that accompanies many disease that affect the brain. I am therefore extremely honoured to present this book. The 15 very interesting chapters of the book cover various fields in epileptology -they encompass the etiology and pathogenesis of the disease, clinical presentation with special attention to the epileptic syndromes of childhood, principles of medical management, surgical approaches, as well as social aspects of the disease.Author Takao dedicated the chapter to the clinical and experimental investigations in polymicrogyria, that were reviewed with special reference to the epileptogenicity of this malformation. The cortical hyperexcitability in polymicrogyria may be reduced by the inhibitory neuronal network constructed by a population of aberrantly migrating inhibitory interneurons, which are mobilized from the ganglionic eminence during the development of polymicrogyria. Authors Kanemura and Aihara wrote about epileptic patients with continuous spikes and waves during slow sleep, in which mentioned electroencephalographic findings were associated with frontal lobe growth disturbance. They state that seizures and paroxysmal anomaly durations may be influenced by prefrontal lobe growth, which relates to neuropsychological problems.Authors Isam et al wrote the chapter about neonatal seizures. Neonatal seizures are common and the incidence is variable according to age and maturity of the neonate, X Preface

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“…Since the original description of Dravet syndrome, ataxia was reported in 80% of patients [ 49 ], usually appearing during childhood. Later publications reported more variable frequency of ataxia, between 50 and 80%.…”

Section: Discussionmentioning

confidence: 99%

Quantitative Characterization of Motor Control during Gait in Dravet Syndrome Using Wearable Sensors: A Preliminary Study

Bisi

Marco

Ragona

et al. 2022

Sensors

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Dravet syndrome (DS) is a rare and severe form of genetic epilepsy characterized by cognitive and behavioural impairments and progressive gait deterioration. The characterization of gait parameters in DS needs efficient, non-invasive quantification. The aim of the present study is to apply nonlinear indexes calculated from inertial measurements to describe the dynamics of DS gait. Twenty participants (7 M, age 9–33 years) diagnosed with DS were enrolled. Three wearable inertial measurement units (OPAL, Apdm, Portland, OR, USA; Miniwave, Cometa s.r.l., Italy) were attached to the lower back and ankles and 3D acceleration and angular velocity were acquired while participants walked back and forth along a straight path. Segmental kinematics were acquired by means of stereophotogrammetry (SMART, BTS). Community functioning data were collected using the functional independence measure (FIM). Mean velocity and step width were calculated from stereophotogrammetric data; fundamental frequency, harmonic ratio, recurrence quantification analysis, and multiscale entropy (τ = 1...6) indexes along anteroposterior (AP), mediolateral (ML), and vertical (V) axes were calculated from trunk acceleration. Results were compared to a reference age-matched control group (112 subjects, 6–25 years old). All nonlinear indexes show a disruption of the cyclic pattern of the centre of mass in the sagittal plane, quantitatively supporting the clinical observation of ataxic gait. Indexes in the ML direction were less altered, suggesting the efficacy of the compensatory strategy (widening the base of support). Nonlinear indexes correlated significantly with functional scores (i.e., FIM and speed), confirming their effectiveness in capturing clinically meaningful biomarkers of gait.

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Encephalopathie myoclonique precoce avec epilepsie

Cited by 8 publications

References 6 publications

Neonatal seizures: Early-onset seizure syndromes and their consequences for development

Neonatal seizures: Early-onset seizure syndromes and their consequences for development

Epilepsy in Children - Clinical and Social Aspects

Quantitative Characterization of Motor Control during Gait in Dravet Syndrome Using Wearable Sensors: A Preliminary Study

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