Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia

Incorpora, Gemma; Pavone, Piero; Ruggieri, Martino; Cocuzza, Mariadonatella; Mazzone, Luigi; Parano, Enrico; Privitera, Michael

doi:10.1016/j.eplepsyres.2007.08.003

Cited by 9 publications

(8 citation statements)

References 6 publications

(6 reference statements)

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“…These differences may suggest that our patients have a syndrome distinct from typical HWE. The phenotype of our patients also differs from other previously reported cases of seizures triggered by water such as the case of HWE and McCune‐Albright syndrome, the monozygotic twins with neonatal onset of hot water reflex seizures subsequently manifesting episodes of alternating hemiplegia, and finally the young girl with SCN1A mutation and severe myoclonic epilepsy, hemiconvulsion‐hemiplegia syndrome, and also HWE . For the new syndrome described herein, we propose the label “X‐focal epilepsy with reflex bathing seizures,” emphasizing the X‐linked inheritance, the focal network activated, and the presence of reflex seizures occurring in the context of bathing.…”

Section: Discussionmentioning

confidence: 48%

X‐linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome

et al. 2015

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SUMMARYObjective: We recently reported a Q555X mutation of synapsin 1 (SYN1) on chromosome Xp11-q21 in a family segregating partial epilepsy and autistic spectrum disorder. Herein, we provide a detailed description of the epileptic syndrome in the original family. Methods: A total of 34 members from a large French-Canadian family were evaluated. Family members with seizures or epilepsy underwent (when possible) clinical, neuropsychological, electrophysiologic, and neuroimaging assessments. Results: Epilepsy was diagnosed in 10 family members (4 deceased, 6 living). In addition to occasional spontaneous complex partial seizures, seven family members clearly had reflex seizures triggered by bathing or showering. Hippocampal atrophy was found in two of five epileptic family members family members who underwent magnetic resonance (MR) imaging. Video-electroencephalography (EEG) recordings of three triggered seizures in two affected members showed rhythmic theta activity over temporal head regions. Ictal single-photon emission computed tomography (SPECT) showed temporoinsular perfusion changes. Detailed neuropsychological assessments revealed that SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder. Female carriers also exhibited reading impairments and febrile seizures but no chronic epilepsy. Significance: Available evidence suggests that impaired SYN1 function is associated with hyperexcitability of the temporoinsular network and disturbance of high mental functions such as language and social interaction. The presence of reflex bathing seizures, a most peculiar clinical feature, could be helpful in identifying other patients with this syndrome.

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Section: Discussionmentioning

confidence: 48%

X‐linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome

et al. 2015

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“…However, no genetic basis for simple bathing epilepsy has been suggested. Differential diagnosis with other paroxysmal disorders during bathing should be made, such as alternating hemiplegia of childhood (Incorpora et al, 2008(Incorpora et al, , 2010, hyperekplexia and paroxysmal extreme pain disorder, aquagenic urticaria and syncope (Nechay and Stephenson, 2009). In the comprehensive review of Nechay and Stephenson (2009), it was suggested that reported cases of aquagenic urticaria and syncope were in fact probably examples of bathing epilepsy.…”

Section: Discussionmentioning

confidence: 99%

Bathing epilepsy: a video case of an autonomic seizure

Jansen¹,

Vervisch²,

Lagae³

2010

Epileptic Disorders

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A six-year-old Moroccan boy experienced nausea, paleness and oral automatisms after almost every shower. A clinical diagnosis of bathing epilepsy was assumed. A video-EEG recording was taken during and after a shower and confirmed ictal high voltage repetitive slow waves over the left temporal lobe. Bathing epilepsy or water immersion epilepsy is a rare form of reflex epilepsy often presenting with autonomic seizures. The onset is usually in the first year of life and the evolution is benign.

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“…[14] Autonomic phenomena such as vasomotor changes may also be observed. [3][4][5] Incorpora et al [20] described monozygotic twins who complained of hot water reflex seizures until 3 years each time they were immersed in a warm water bath or when hot water was sprinkled over the body eliciting irritability, unprovoked smile, head deviation, and upper-limb hypertonia to one side lasting from a few seconds to 3-4 min. These episodes ceased after crying.…”

Section: Symptoms and Signsmentioning

confidence: 99%

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

et al. 2022

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Alternating Hemiplegia of Childhood (AHC) is a rare disorder with onset in the first 18 months of life characterized by stereotyped paroxysmal manifestations of tonic and dystonic attacks, nystagmus with other oculomotor abnormalities, respiratory and autonomic dysfunctions. AHC is often associated with epileptic seizures and developmental delay. Hemiplegic paroxysm is the most remarkable symptom, although AHC includes a large series of clinical manifestations that interfere with the disease course. No cure is available and the treatment involves many specialists and therapies. Flunarizine is the most commonly used drug for reducing the frequency and intensity of paroxysmal events. Mutations in ATP1A2, particularly in ATP1A3, are the main genes responsible for AHC. Some disorders caused by ATP1A3 variants have been defined as ATP1A3-related disorders, including rapid-onset dystonia-parkinsonism, cerebellar ataxia, pes cavus, optic atrophy, sensorineural hearing loss, early infant epileptic encephalopathy, child rapid-onset ataxia, and relapsing encephalopathy with cerebellar ataxia. Recently, the term ATP1A3 syndrome has been identified as a fever-induced paroxysmal weakness and encephalopathy, slowly progressive cerebellar ataxia, childhood–onset schizophrenia/autistic spectrum disorder, paroxysmal dyskinesia, cerebral palsy/spastic paraparesis, dystonia, dysmorphism, encephalopathy, MRI abnormalities without hemiplegia, and congenital hydrocephalus. Herewith, we discussed about historical annotations of AHC, symptoms, signs and associated morbidities, diagnosis and differential diagnosis, treatment, prognosis, and genetics. We also reported on the ATP1A3-related disorders and ATP1A3 syndrome, as 2 recently established and expanded genetic clinical entities.

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Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia

Cited by 9 publications

References 6 publications

X‐linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome

X‐linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome

Bathing epilepsy: a video case of an autonomic seizure

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

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