Read more about the article Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.
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Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.

Abstract Complete androgen insensitivity syndrome (CAIS) is characterized by a completely female phenotype in a 46,XY individual and is caused by mutations in the androgen receptor (AR) gene. A 5…

Continue ReadingComplete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene.
Read more about the article 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
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5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.

Abstract 5alpha-Steroid reductase deficiency (5alphaSRD) is an autosomal recessive enzymatic deficiency. Mutations in the 5alpha-steroid reductase type 2 gene (SRD5A2) result in male pseudohermaphroditism caused by decreased dihydrotestosterone (DHT) synthesis--a…

Continue Reading5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
Read more about the article Brainstem auditory evoked responses that disappear during sleep: a possible manifestation of a neurogenic vestibular evoked response.
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Brainstem auditory evoked responses that disappear during sleep: a possible manifestation of a neurogenic vestibular evoked response.

Abstract To present a case of unilateral hearing loss in which a brainstem auditory evoked potential (BAEP) disappeared during sleep on the symptomatic side, and to argue that this may…

Continue ReadingBrainstem auditory evoked responses that disappear during sleep: a possible manifestation of a neurogenic vestibular evoked response.
Read more about the article Ulnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.
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Ulnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.

Abstract Published correlations between electrophysiological and surgical findings are relatively rare in cases of ulnar nerve compression at the wrist, compared to the more common compression of the ulnar nerve…

Continue ReadingUlnar neuropathy at Guyon’s canal: electrophysiological and surgical findings.
Read more about the article Parallel auditory vestibular evoked neurogenic and myogenic potential results in a case of peripheral vestibular dysfunction, showing that the former originates from the vestibular system.
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Parallel auditory vestibular evoked neurogenic and myogenic potential results in a case of peripheral vestibular dysfunction, showing that the former originates from the vestibular system.

Abstract Vestibular evoked myogenic potentials (VEMPs) uses high intensity clicks with recording from the tonically active sternocleidomastoid muscle, taking advantage of the close proximity of the saccule to the oval…

Continue ReadingParallel auditory vestibular evoked neurogenic and myogenic potential results in a case of peripheral vestibular dysfunction, showing that the former originates from the vestibular system.
Read more about the article Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
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Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.

Abstract To determine the phenotypic and cellular expression of two novel connexin32 (Cx32) mutations causing X-linked Charcot-Marie-Tooth disease (CMT1X). The authors evaluated several members of two families with CMT1X clinically,…

Continue ReadingPhenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Read more about the article Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
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Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.

Abstract The spectrum of distal renal tubular acidosis (dRTA) includes a genetically heterogeneous group of inherited conditions of both autosomal-dominant and recessive mode of inheritance. The basic defect is linked…

Continue ReadingMolecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
Read more about the article Tuberous sclerosis successfully treated with levetiracetam monotherapy: 18 months of follow-up.
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Tuberous sclerosis successfully treated with levetiracetam monotherapy: 18 months of follow-up.

Abstract We present the case of a boy with tuberous sclerosis who was referred for evaluation and treatment of his intractable epileptic seizures, having failed multiple anti-epileptic drug trials. He…

Continue ReadingTuberous sclerosis successfully treated with levetiracetam monotherapy: 18 months of follow-up.
Read more about the article Levetiracetam in three cases of progressive myoclonus epilepsy.
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Levetiracetam in three cases of progressive myoclonus epilepsy.

Abstract We present three unrelated cases of genetically confirmed progressive myoclonic epilepsy of the Unverricht-Lundborg type who were treated with Levetiracetam as adjunctive therapy for their myoclonus. All cases responded…

Continue ReadingLevetiracetam in three cases of progressive myoclonus epilepsy.
Read more about the article Epileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.
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Epileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.

Abstract To present and discuss a case of a woman who for many years was presumed to have nonepileptic seizures (NES), but proved to actually have both electrical and non-electrical…

Continue ReadingEpileptic seizures followed by nonepileptic manifestations: a video-EEG diagnosis.