[Clinical Characteristics of Autoimmune Disease with Dual Seropositive Antibodies of Leucine-rich Glioma Inactivated 1 and Contactin-associated Protein 2].

Objective To explore the clinical characteristics of autoimmune disease with dual seropositive antibodies of leucine-rich glioma inactivated 1(LGI1)and contactin-associated protein 2(Caspr2).Methods The clinical data of seven patients with dual seropositive LGI1 and Caspr2 antibodies who were admitted to the Neurology Department of Peking Union Medical College Hospital from July 2014 to December 2017 were retrospectively analyzed.Results Central,peripheral and autonomic nervous systems were all involved in the seven cases;100%(7/7)presented with insomnia,myokymia,neuropahic pain and hyperhydrosis;71%(5/7)showed memory decline or psychiatric and behavioral symptoms;57%(4/7)had urinary hesitation or constipation;and 43%(3/7)had seizure.

New-Onset Geriatric Epilepsy in China: A Single-Center Study.

Background: Few studies have been published on new-onset geriatric epilepsy especially in older Chinese people. This study was to have a comprehensive understanding of new-onset geriatric epilepsy and find a more reasonable diagnosis and management of epilepsy in older people.

Methods: One hundred and three patients with onset age 60 years and older were admitted between January 2008 and December 2016.

Real-time TCD-vEEG monitoring for neurovascular coupling in epilepsy.

Purpose: Recently, a novel multi-model monitor has been available, which integrates real-time signals of transcranial Doppler (TCD) and video-EEG (vEEG) into one workstation. We sought to test the feasibility of this device in detecting neurovascular coupling in patients with epilepsy.

Method: Cerebral blood flow velocity (CBFV) of bilateral middle cerebral arteries and vEEG during seizure episodes were recorded simultaneously in 12 patients (age 17-58 years) with partial epilepsies.

Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.

Tuberous sclerosis complex is an autosomal dominant disorder characterized by hamartomas in multiple organ systems. Mutations in the 2 large genes TSC1 and TSC2 have been demonstrated to be associated with tuberous sclerosis complex by various mutation screening methods. Targeted next-generation sequencing for genetic analysis is performed in the current study and is proved to be less cost, labor, and time consuming compared with Sanger sequencing.

Re-evaluation of PRRT2 mutations in paroxysmal disorders.

Mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis syndrome (ICCA), and paroxysmal kinesigenic dyskinesia (PKD). Other paroxysmal disorders like febrile seizures, migraine, paroxysmal exercise-induced dyskinesia, and paroxysmal non-kinesigenic dyskinesia have also been shown to be associated with this gene. We re-evaluated PRRT2 mutations and genetic-clinical correlations in additional cases with PKD/ICCA and other paroxysmal disorders.

Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.

Background: Paroxysmal dyskinesias (PDs), a clinically and genetically heterogeneous group of episodic movement disorders, include kinesigenic PD (PKD), exercise-induced PD (PED) and non-kinesigenic PD (PNKD). These disorders are all transmitted as autosomal dominant traits with incomplete penetrance. Several PD-related genetic disorders, including PKD and familial infantile convulsions with paroxysmal choreoathetosis (ICCA), mapped to the same region on chromosome 16.

[Clinical analysis of 7 patients with Gerstmann syndrome secondary to cerebral vascular disease].

Objective: To analyze clinical features of patients with Gerstmann syndrome (GS).

Methods: We retrospectively analysed the clinical manifestations of 7 patients (6 men and 1 woman) with GS secondary to cerebral vascular diseases and reviewed the literatures.

Results: The age ranged from 51 to 70 years with a mean of 70 years.