Startle epilepsy

Startle epilepsy is a rare neurologic disease characterized by frequent and spontaneous epileptic seizures (frequently with symmetrical or asymmetrical tonic features) triggered by a normal startle in response to a sudden and unexpected somatosensory (most frequently auditory) stimulus. Falls are common and can be traumatic. In most cases, the disease is associated with spastic hemi-, di-, or tetraplegia and intellectual disability.



Input patient's signs and symptoms


Narrow down the case reports



Total: 24 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(17.5%)
23531553
Corpus callosotomy in a patient with startle epilepsy.
Gomez NG, Hamad AP, Marinho M, Tavares IM, Carrete H Jr, Caboclo LO Jr, Yacubian EM Jr, Centeno R Jr.
Epileptic Disord. 2013;15(1):76-9.
Seizure Frequent falls
Anticonvulsants Corpus Callosum Epilepsy, Reflex Females Homo sapiens
1
(17.5%)
15036433
Startle epilepsy complicating aspartylglucosaminuria.
Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A.
Brain Dev. 2004;26(2):130-3.
Seizure Frequent falls
Acoustic Stimulation Adult Anticonvulsants Brain Differential Diagnosis Electroencephalography Electromyography Epilepsy Gait Disorders, Neurologic Homo sapiens Lysosomal Storage Diseases, Nervous System Magnetic Resonance Imaging Male Muscle Contraction Reflex, Startle
3
(4.0%)
28938499
Postherpetic Anti-N-methyl-D-aspartate Receptor Encephalitis after Hemispherotomy in a Patient with Intractable Startle Epilepsy.
Erkent I, Gocmen R, Tezer FI, Oguz KK, Kucuksahin N, Soylemezoglu F, Bilginer B, Saygi S.
Neuropediatrics. 2018;49(1):63-67.
Seizure
Anti-N-Methyl-D-Aspartate Receptor Encephalitis Epilepsy Females Hemispherectomy Homo sapiens Magnetic Resonance Imaging Postoperative Complications
3
(4.0%)
26576006
Electroclinical and cytogenetic features of epilepsy in cri-du-chat syndrome.
Nakagami Y, Terada K, Ikeda H, Hiyoshi T, Inoue Y.
Epileptic Disord. 2015;17(4):485-90.
Intellectual disability
Adult Brain Chromosomes, Human, Pair 5 Cri-du-Chat Syndrome Electroencephalography Epilepsy Females Homo sapiens
3
(4.0%)
25667869
(4308030)
Noninvasive treatment alternative for intractable startle epilepsy.
Klinkenberg S, Ubbink S, Vles J, de Louw A, van Hall MD, Scheijen D, Brokx J.
Epilepsy Behav Case Rep. 2014;2:49-53.
Seizure
3
(4.0%)
24950661
A case of startle epilepsy associated with IL1RAPL1 gene deletion.
Dinopoulos A, Stefanou MI, Attilakos A, Tsirouda M, Papaevangelou V.
Pediatr Neurol. 2014;51(2):271-4.
Seizure
IL1RAPL1
Developmental Disabilities Epilepsy, Reflex Gene Deletion Homo sapiens Infant Interleukin-1 Receptor Accessory Protein Male Reflex, Startle Syncope
3
(4.0%)
23141145
Seizure-free after surgery in a patient with non-lesional startle epilepsy: a case report.
Sun YP, Zhu HW, Zhang SW, Huang ZY, Li LP, Qiao L, Du W, Wang YP.
Epilepsy Behav. 2012;25(4):700-3.
Seizure
Brain Electroencephalography Epilepsy, Reflex Homo sapiens Magnetic Resonance Imaging Male Motor Cortex Neuroimaging Reflex, Startle
3
(4.0%)
22824695
Surgical treatment in startle epilepsy.
Tian H, Shi X, Zuo H, Zhou W.
Neurol India. 2012;60(3):321-4.
Seizure
Child Electroencephalography Epilepsy Homo sapiens Magnetic Resonance Imaging Male Reflex, Startle X-Ray Computed Tomography
3
(4.0%)
22675038
Adult onset startle epilepsy.
Moseley BD, Shin C.
BMJ Case Rep. 2011;2011:.
Seizure
Anticonvulsants Electroencephalography Epilepsy Homo sapiens Male Middle Aged Reflex, Startle Triazines Video Recording
3
(4.0%)
19809941
Startle epilepsy associated with infantile hemiplegia (SEIH): video-polygraphic features and long-term outcome.
d'Orsi G, Demaio V, Operto F, Auricchio G, Minervini MG, Coppola G.
Neuropediatrics. 2009;40(2):97-100.
Seizure
Acoustic Stimulation Electroencephalography Epilepsy Females Hemiplegia Homo sapiens Intellectual Disability Longitudinal Studies Reflex, Startle Video Recording
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 9

HPO ID Term # of case reports
HP:0001250 Seizures 13
HP:0002301 Hemiplegia 4
HP:0002524 Cataplexy 2
HP:0001298 Encephalopathy 1
HP:0002013 Vomiting 1
HP:0002133 Status epilepticus 1
HP:0002329 Drowsiness 1
HP:0002527 Falls 1
HP:0100021 Cerebral palsy 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID