Familial Diffuse Cortical Dysplasia

Kuzniecky, Ruben

doi:10.1001/archneur.1994.00540150109027

Cited by 21 publications

(11 citation statements)

References 9 publications

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“…Bilateral perisylvian polymicrogyria usually occurs sporadically, but siblings have been described in three families (15,27). Familial bilateral posterior pachygyria has also been reported in two pairs of brothers (16,17) and could be related to X-linked or autosomal recessive transmission. These localized malformations having familial distribution were consistently bilateral and symmetric.…”

Section: Discussionmentioning

confidence: 89%

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Familial Epilepsy with Unilateral and Bilateral Malformations of Cortical Development

Bartolomei¹,

Gavaret²,

Dravet³

et al. 1999

Epilepsia

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Summary: Purpose: To describe a family in whom two sisters with epilepsy, mental retardation, and microcephaly had different malformations of cortical development detected by magnetic resonance imaging (MRI).Methods: Clinical investigation of the patients and their family. High-resolution MRI, cognitive testing, and repeated EEG recording in both patients.Results: In one patient, the malformation was bilateral and diffuse but much more pronounced in the parietal and occipital regions, with MRI characteristics indicating pachygyriapolymicrogyria. In the other patient, the abnormality involved the right hemisphere, predominating around the perisylvian region, with MRI more clearly indicative of polymicrogyria. A brother also had severe epilepsy, diffuse EEG abnormalities, mental retardation, and microcephaly, but could not be studied neuroradiologically . Conclusions:Lack of MRI studies in the parents and brother does not allow a precise hypothesis on the mode of transmission. However, findings from this family indicate that unilateral malformations of cortical development detected during investigations after seizure onset may be genetically based, suggesting that a single genetic abnormality could be responsible for bilateral or unilateral malformations.

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Section: Discussionmentioning

confidence: 89%

“…A possible genetic origin also was hypothesized for other malformations such as bilateral perisylvian polymicrogyria (1 5 ) and bilateral posterior pachygyria (16,17). In rare cases, these have been observed in more than one member of the same family, showing a pattern consistent with both recessive and X-linked inheritance.…”

mentioning

confidence: 99%

Familial Epilepsy with Unilateral and Bilateral Malformations of Cortical Development

Bartolomei¹,

Gavaret²,

Dravet³

et al. 1999

Epilepsia

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“…None of the tests demonstrated any abnormality in the Scn1a gene.DISCUSSIONFCDs belong to a group of disorders known as malformations of cortical development. It is estimated that up to 40% of medically refractory epilepsy is caused by malformations of cortical development including FCDs 5. Although FCDs represent a frequent cause of epilepsy, the pathological and etiological factors are poorly understood.…”

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confidence: 99%

Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa

Fabera

Krijtová

Tomášek

et al. 2015

Seizure

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We present a unique case of refractory mesial temporal lobe epilepsy in siblings, characterized by an identical clinical profile and histopathology of FCD type IIIa, who were successfully treated by epilepsy surgery. The presence of such a high concordance between the clinical and morphological data, together with the occurrence of epilepsy and febrile seizures in three generations of the family pedigree points towards a possible genetic nature of the observed FCD type IIIa.

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“…An autosomal inheritance was suggested for cases described by Straussberg et al [1996] and is definite in the familial cases described by Sztriha et al [1998]. The mode of inheritance in the cases described by Kuzniecky [1994] may be autosomal or X linked. All other cases appear to be X linked.…”

Section: Discussionmentioning

confidence: 98%