Aspects electroencephalographiques de l'agyrie-pachygyrie classique

Dulac, Olivier; Plouin, P; Perulli, L; Diebler, C; Arthuis, M; Jalin, C

doi:10.1016/s0370-4475(83)80033-1

Cited by 23 publications

(11 citation statements)

References 10 publications

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“…About 80% of children have infantile spasms, although the EEG may not show typical hypsarrhythmia. Later, most children have mixed seizure disorders, including persisting spasms, focal motor and generalized tonic seizures [Dulac et al, 1983;Guerrini et al, 1993Guerrini et al, , 1996aFogli et al, 1999], complex partial seizures, atypical absences, and atonic and myoclonic seizures. In this severe malformation the physiological processes of postnatal cortical maturation are lacking, as shown by the absence of any age-or localization-related rCBF changes using SPECT [Chiron et al, 1996].…”

Section: Classical Lissencephaly and Subcortical Band Heterotopia (Thmentioning

confidence: 99%

Epilepsy and genetic malformations of the cerebral cortex

Guerrini

Carrozzo²

2001

Am. J. Med. Genet.

188

181

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Malformations of the cerebral cortex are an important cause of developmental disabilities and epilepsy. Here we review those malformations for which a genetic basis has been elucidated or is suspected and the types of associated epilepsy. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including partial epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene were reported in 13 patients. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in females and prenatal lethality in males. About 88% of patients have partial epilepsy. Filamin A mutations, all leading to a truncated protein, have been reported in three families and in sporadic patients. The most frequent forms of lissencephaly (agyria-pachygyria) are caused by mutations of LIS1. XLIS mutations cause classical lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females. The thickness of the heterotopic band and the degree of pachygyria correlate with the likelihood of developing Lennox-Gastaut syndrome. Mutations of the coding region of XLIS were found in all reported pedigrees and in 38-91% of sporadic female patients with SBH. With few exceptions, children with LIS1 mutations have isolated lissencephaly, with severe developmental delay and infantile spasms. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe developmental delay, seizures, and hypotonia has been associated with mutations of the reelin gene. Fukuyama congenital muscular dystrophy is due to mutations of the fukutin gene and is accompanied by polymicrogyria. Febrile seizures and epilepsy with generalized tonic-convulsions appear in about 50% of children but are usually not severe. Tuberous sclerosis (TS) is caused by mutations in at least two genes, TSC1 and TSC2; 75% of cases are sporadic; 60% of patients have epilepsy, manifested in 50% of them as infantile spasms. TSC1 mutations seem to cause a milder disease with fewer cortical tubers and lower frequency of seizures. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance, and association with 22q11.2 deletions. About 65% of patients have severe epilepsy, often Lennox-Gastaut syndrome.

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Section: Classical Lissencephaly and Subcortical Band Heterotopia (Thmentioning

confidence: 99%

Epilepsy and genetic malformations of the cerebral cortex

Guerrini

Carrozzo²

2001

Am. J. Med. Genet.

188

181

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“…This is the largest series of such patients t o be published so far. Their clinical characteristics are compared with 55 previous reports in the literature which are sufficiently detailed to allow such comparison (De Lange 1939;Josephy 1944;Crome 1956;Druckman et al 1956;Miller 1963;Miinchof and Noetzel 1965;Wesenberg et al 1966;Harper 1967;Hanaway et al 1968;Dieker et al 1969;Stewart et al 1975;Jellinger and Rett 1976;Norman et al 1976;Garcia et al 1978;Tor0 Sola et al 1978;Hakamada et al 1979;Ohno et al 1979;Jones et al 1980;Carpenter et al 1981;Neher and Lisson 1982;Dobyns et al 1983Dobyns et al , 1984Dulac et al 1983; Williams and Joslyn 1983; Alvarez et al 1986;Bordarier et al 1986;Greenberg et al 1986;Goutieres et al 1987;Motte et al 1987;Cordes et al 1988).…”

Section: Present Studymentioning

confidence: 99%

Diagnostic Features And Clinical Signs Of 21 Patients With Lissencephaly Type I

Andel¹,

Arts

Barth

et al. 1990

Develop Med Child Neuro

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SUMMARY Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller‐Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation‐wide study in The Netherlands, of 21 patients with lissencephaly type I, four were found to have MDS and 17 ILS. New clinical aspects were as follows: the mean life‐span of the entire group was longer than previously reported; patients with lissencephaly grades 3 or 4 (mixture of agyria and pachygyria, or complete pachygyria) developed seizures later than those with grades 1 and 2 (complete and almost complete agyria); microcephaly was not always present in patients with grades 3 and 4 lissencephaly; and patients with lissencephaly grades 1 and 2 had hardly any psychomotor development, while those with grades 3 and 4 were severely retarded. RÉSUMÉ Caractéristiques diagnostiques et signes cliniques chez 21 sujets présentant une lissencéphalie de type I La lissencéphalie de type I a été décrite ou bien comme l'expression cérébral d'un syndrome malformatif complexe tel le syndrome de Miller‐Dieker (MDS) ou comme une manifestation lissencèphalique isolèe (ILS). Dans une ètude à l'échelon national des Pays‐Bas, parmi 21 sujets avec lissencèphalie de type 1, quatre ont été trouvés avec MDS et 17 avec ILS. Des nouvelles données cliniques ont été obtenues. La durée de vie moyenne du groupe entier fut plus longue qu'elle n'avait été reporteé antériéurement; les patients avec une lisséncephalie de niveau 3 ou 4 (mélange d'agyrie et de pachygyrie ou pachygyrie pure présentaient des crises plus tardives que ceux de niveau 1 et 2 (agyrie complète ou presque complète); la microcéphalie n'ètait pas toujours présente chez les sujets avec lissencèphalie de niveau 3 et 4; les patients avec lissencéphalie de type 1 et 2 présentaient a peine un retard de développement psycho‐moteur tandis que le retard ètait important pour les niveaux 3 et 4. ZUSAMMENFASSUNG Diagnostische Merkmale und klinische Symptome bei 21 Patienten mit Lissenzephalie Typ I Lissenzephalie Typ I ist entweder als cerebrales Bild eines komplexen Mifibildungssyndroms, wie das Miller‐Dieker Syndrom (MDS) oder als isolierte Lissenzephalie Sequenz (ILS) beschrieben worden. In einer nationalen Studie in den Niederlanden hatten von 21 Patienten mit einer Lissenzephalie Typ I, vier eine MDS und 17 eine ILS. Es fanden sich folgende neue klinische Aspekte: Die mittlere Lebenserwartung der Gesamtgruppe war höher als zuvor berichtet; die Patienten mit Lissenzephalie Grad 3 und 4 (Mischung aus Agyrie und Pachygyrie, oder komplette Pachygyrie) entwickelten spáter Anfälle als die mit Grad 1 und 2 (komplette oder fast komplette Agyrie); nicht alle Patienten mit Lissenzephalie Grad 3 und 4 hatten eine Mikrozephalie; und Patienten mit Lissenzephalie Grad 1 und 2 hatten so gut wie keine psychomotorische Entwicklung, während die mit Grad 3 und 4 hochgradig retardiert waren. RESUMEN Caracteristicas diagnósticas y signos cli'nicos en 21 pacientes con Lisencefalia del tipo I La ...

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“…The electroencephalogram is characteristic with very high amplitude rhythms in the alpha range, associated with delta waves and with infrequent spikes [4]. CT scan shows cortical smoothness, absent gyri, delta shaped sylvian fissures with failure of insular opercularization and colpocephalic aspects of the lateral ventricles [5,6].…”

Section: I S S E N C E P H a L Y Is A D E V E L O P M E N T A L M Amentioning

confidence: 99%

“…Familial forms with abnormal chromosome 17 on high resolution chromosome banding studies are described, especially in cases with associated cardiac or extremity malformations [3][4][5][6][7].…”

Section: I S S E N C E P H a L Y Is A D E V E L O P M E N T A L M Amentioning

confidence: 99%