Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3

Hedera, Peter; Blair, Marcia; Andermann, Eva; Andermann, Frédérick; D’Agostino, Daniela; Taylor, Kelly; Chahine, Lyne; Pandolfo, Massimo; Bradford, Yuki; Haines, Jonathan L.; Abou-Khalil, B.

doi:10.1212/01.wnl.0000261246.75977.89

Cited by 61 publications

(27 citation statements)

References 18 publications

(19 reference statements)

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“…Similar families were reported also from other authors [6][7][8] and a linkage to 4q13.2-q21.3 has been recently suggested in a single large pedigree [9].…”

Section: Introductionsupporting

confidence: 89%

“…DNA was extracted by standard methods and typed with microsatellite markers, including D4S2317, D4S1517, D4S2990 at 4q [9], D12S1051, D12S1706, D12S 1727 at 12q22-23.3 [13], and D18S1009, D18S554, D18S462, at 18qter, and D1S2691, D1S2640, D1S2848 at 1q25-q31 [12]. PCR amplification of microsatellite markers was performed with fluorescently labeled primers in a thermal cycler (MJ research,Waltham MA, USA).…”

Section: ■ Genotype Determination and Linkage Analysismentioning

confidence: 99%

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Familial mesial temporal lobe epilepsy (FMTLE)

Striano¹,

Gambardella²,

Coppola³

et al. 2007

J Neurol

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“…Similar families were reported also from other authors [6][7][8] and a linkage to 4q13.2-q21.3 has been recently suggested in a single large pedigree [9].…”

Section: Introductionsupporting

confidence: 89%

Section: ■ Genotype Determination and Linkage Analysismentioning

confidence: 99%

Familial mesial temporal lobe epilepsy (FMTLE)

Striano¹,

Gambardella²,

Coppola³

et al. 2007

J Neurol

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“…Linkage analyses lead to the identification of a genetic locus on chromosome 4p for familial temporal lobe epilepsy. These patients had no structural abnormalities of the brain including the hippocampal areas [4]. Studies on temporal lobe epilepsy in young childhood less than ten years of age suggest that complex febrile convulsions in infancy can be associated with high-signal areas on MR attributed to HS [6,15].…”

Section: Discussionmentioning

confidence: 99%

Development of hippocampal sclerosis after a complex febrile seizure

Merkenschlager

Todt

Pfluger³

et al. 2008

Eur J Pediatr

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The role of prolonged febrile seizures in the genesis of hippocampal sclerosis is controversial; statistical analysis and data from epilepsy surgery suggest a causal relationship. A three-year-old boy had an initial febrile seizure with a transient postictal flaccid hemiparesis. Magnetic resonance imaging (MRI) showed no abnormality of the hippocampal areas of both sides. At the age of four a prolonged febrile seizure occurred. An MRI was done immediately and gave abnormal results in the right hippocampal area where T2-weighted and dark fluid sequences showed increased signal intensity; in diffusion-weighted sequences this region appeared hyperintense, which is in agreement with acute neuronal damage. Six weeks later the right hippocampal region still gave hyperintense signals in MRI (T2-weighted), while the diffusion coefficient was unremarkable. A final MRI scan was done 16 months following the second febrile seizure where the right hippocampal region still gave hyperintense signals and was reduced in size as is typical for hippocampal sclerosis. This case illustrates the development of a hippocampal lesion following a prolonged focal febrile seizure without any preexisting hippocampal lesion or positive family history. This suggests that prolonged febrile seizures alone can be a causative factor of hippocampal sclerosis.

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“…Hinzu kommt, dass einige Familien mit Fieberkrämpfen und Temporallappenanfällen keine hippokampale Auffälligkei-ten aufweisen. Für die klassische Form der FTLE (ohne Hippocampussklerose) konnte ein genetischer Locus auf Chromosom 4q identifiziert werden [38]. Inwiefern die Hippocampussklerose sekundär durch die Fieberkrämpfe, die anhaltenden Anfälle oder eine frühe Läsion verursacht sein könnte, bleibt derzeit offen; eine gemeinsame genetische Suszeptibilität beider Anfallstypen muss angenommen werden [37].…”

Section: Familiäre Temporallappenepilepsienunclassified