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Familial temporal lobe epilepsy 4(ETL4; EPOLM)

MedGen UID:
368897
Concept ID:
C1968847
Disease or Syndrome
Synonym: EPILEPSY, OCCIPITOTEMPORAL LOBE, AND MIGRAINE WITH AURA
 
Monarch Initiative: MONDO:0012706
OMIM®: 611631

Definition

A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22. [from MONDO]

Clinical features

From HPO
Migraine with aura
MedGen UID:
57822
Concept ID:
C0154723
Disease or Syndrome
A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession.
Auditory hallucination
MedGen UID:
115932
Concept ID:
C0233762
Sign or Symptom
Perception of sounds without auditory stimulus.
Focal aware seizure
MedGen UID:
65895
Concept ID:
C0234974
Disease or Syndrome
A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.
Focal impaired awareness seizure
MedGen UID:
543022
Concept ID:
C0270834
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
Focal sensory seizure with visual features
MedGen UID:
75815
Concept ID:
C0278188
Disease or Syndrome
A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colors, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation.

Recent clinical studies

Etiology

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article
Kinoshita M, Takahashi R, Ikeda A
Epileptic Disord 2008 Sep;10(3):206-12. doi: 10.1684/epd.2008.0203. PMID: 18782689
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362

Diagnosis

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article
Kinoshita M, Takahashi R, Ikeda A
Epileptic Disord 2008 Sep;10(3):206-12. doi: 10.1684/epd.2008.0203. PMID: 18782689
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362
Gambardella A, Messina D, Le Piane E, Oliveri RL, Annesi G, Zappia M, Andermann E, Quattrone A, Aguglia U
Epilepsy Res 2000 Feb;38(2-3):127-32. doi: 10.1016/s0920-1211(99)00080-7. PMID: 10642040
Berkovic SF, Scheffer IE
Brain Dev 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. PMID: 9071484

Clinical prediction guides

Kobayashi E, Santos NF, Torres FR, Secolin R, Sardinha LA, Lopez-Cendes I, Cendes F
Arch Neurol 2003 Nov;60(11):1546-51. doi: 10.1001/archneur.60.11.1546. PMID: 14623726
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362

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