All individuals with variants in gene SCN1B

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

88 entries on 1 page. Showing entries 1 - 88.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00016323	-	-	-	F	?	Italy	-	-	-	-	-	GEFSP1	-	1	1	Lab Zuffardi
00016331	-	-	-	?	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Lab Zuffardi
00036892	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036893	70719	-	-	M	no	Germany	-	-	-	-	-	?, GEFSP	suspected GEFK+, development normal, several febrile convulsions, familiar febrile convulsions	2	1	Andreas Laner
00036894	-	-	-	-	-	Germany	-	-	-	-	-	-	-	1	1	Andreas Laner
00036895	-	-	-	-	-	Germany	-	-	-	-	-	?	suspected GEFK+, development normal, several febrile convulsions, familiar febrile convulsions	1	1	Andreas Laner
00052958	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052960	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	2	1	Uschi Peeters
00052964	-	PubMed: Peeters 2015	-	F	no	-	N-African	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052965	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052966	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052968	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052969	-	PubMed: Peeters 2015	-	M	no	Italy	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052970	-	PubMed: Peeters 2015	-	F	no	Italy	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052971	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052972	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052974	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	6	1	Uschi Peeters
00052975	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	4	1	Uschi Peeters
00052976	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052977	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052978	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	2	1	Uschi Peeters
00052981	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052985	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052986	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052988	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052990	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052991	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052993	-	PubMed: Peeters 2015	-	F	no	-	unknown	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052994	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052995	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052996	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00052997	-	PubMed: Peeters 2015	-	M	no	-	unknown	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00052999	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053000	-	PubMed: Peeters 2015	-	M	no	Italy	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053001	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053002	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053004	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053005	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053006	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053007	-	PubMed: Peeters 2015	-	M	no	Iran	iranian	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053008	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053013	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053015	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053017	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053018	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053019	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053020	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053022	-	PubMed: Peeters 2015	-	F	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053023	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053024	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	3	1	Uschi Peeters
00053025	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053026	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053027	-	PubMed: Peeters 2015	-	M	no	Belgium	white	-	-	-	-	BRGDA	-	1	1	Uschi Peeters
00053030	-	PubMed: Peeters 2015	-	-	-	-	-	-	-	-	-	BRGDA	-	4	1	Uschi Peeters
00065126	SIDS045	PubMed: Neubauer 2017 Journal: Neubauer 2017	-	M	?	Switzerland	Europe	00y05m	-	-	-	SIDS	SIDS	1	1	Cordula Haas
00081069	-	PubMed: Trujillano 2017	unaffected parents	-	-	-	-	-	-	-	-	DRVT	Dravet syndrome (PMID:19710327)	1	1	Daniel Trujillano
00103918	28327206-PatBH4975_1/_4	PubMed: Eldomery 2017, Journal: Eldomery 2017	-	-	-	United States	-	-	-	-	-	?	developmental delay, intellectual disability, polymicrogyria, cardiomyopathy, nystagmus	1	1	Johan den Dunnen
00116814	S_124:0/1:CONTROL	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 567 controls	-	-	-	-	-	-	-	-	Healthy/Control	-	1	1	Dheeraj Bobbili
00117105	S_742:0/1:ATYPICAL_RE	PubMed: Bobbili 2018, Journal: Bobbili 2018	individual from 194 RE cases	-	-	-	-	-	-	-	-	epilepsy, Rolandic	atypical Rolandic epilepsy	1	1	Dheeraj Bobbili
00128382	78	PubMed: Sahlin 2019, Journal: Sahlin 2019	stillbirth cohort (290 cases from Sweden)	M	-	Sweden	-	-	-	-	-	?	-	1	1	Ellika Sahlin
00152533	-	-	-	M	-	(Germany)	-	-	-	-	-	?	Prolonged QTc interval (HP:0005184); Status epilepticus (HP:0002133)	1	1	IMGAG
00210001	-	-	-	F	-	Germany	-	-	-	-	-	-	HP:0002373 (Febrile seizures)	1	1	Andreas Laner
00292079	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	4	Mohammed Faruq
00292080	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	1	Mohammed Faruq
00292081	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	158	Mohammed Faruq
00304655	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	3	Mohammed Faruq
00320292	AHF1	PubMed: Isbister 2020	-	-	-	Australia	-	-	-	-	-	CM	survived sudden cardiac arrest	1	1	Johan den Dunnen
00374476	S-3088	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	Convulsions, myoclonic jerks, both febrile and afebrile siezures post DPT vaccination	1	1	Johan den Dunnen
00374836	S-2607	PubMed: Ganapathy 2019	-	-	-	India	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00426092	FamA	PubMed: Grinton 2022	6-generation family, 20 affected (9F, 11M), asymptomatic heterozygous carriers	F;M	-	Australia	England;Ireland	-	-	-	-	epilepsy	febrile seizures, febrile seizures plus, febrile seizures plus and absence, myoclonic-astatic epilepsy	1	20	Johan den Dunnen
00426093	FamB	PubMed: Grinton 2022	4-generation family, 7 affected (5F, 2M)	F;M	-	Australia	England;Ireland	-	-	-	-	epilepsy	febrile seizures, febrile seizures plus	1	7	Johan den Dunnen
00426094	FamC	PubMed: Grinton 2022	3-generation family, 8 affected (F, 7M)	F;M	-	Australia	Scotland;Switzerland	-	-	-	-	epilepsy	febrile seizures	1	8	Johan den Dunnen
00426095	FamD	PubMed: Grinton 2022	2-generation family, 2 affected (F, M)	F;M	-	Australia	-	-	-	-	-	epilepsy	febrile seizures, temporal lobe epilepsy	1	2	Johan den Dunnen
00426096	FamE	PubMed: Grinton 2022	3-generation family, 6 affected (2F, 4M)	F;M	-	Australia	England	-	-	-	-	epilepsy	febrile seizures, febrile seizures plus, temporal lobe epilepsy	1	6	Johan den Dunnen
00426097	FamF	PubMed: Grinton 2022	3-generation family, 16 affected (10F, 6M), asymptomatic heterozygous carriers	F;M	-	Australia	England	-	-	-	-	epilepsy	febrile seizures, febrile seizures plus, temporal lobe epilepsy	1	16	Johan den Dunnen
00426098	FamG	PubMed: Grinton 2022	3-generation family, 7 affected (5F, 2M), asymptomatic heterozygous carrier	F;M	-	Australia	England;Germany	-	-	-	-	epilepsy	febrile seizures, temporal lobe epilepsy	1	7	Johan den Dunnen
00426099	FamH	PubMed: Grinton 2022	3-generation family, 4 affected (2F, 2M), asymptomatic heterozygous carrier	F;M	-	Australia	-	-	-	-	-	epilepsy	febrile seizures, Dravet syndrome	1	4	Johan den Dunnen
00426100	FamI	PubMed: Grinton 2022	4-generation family, 9 affected (6F, 2M)	F;M	-	Australia	-	-	-	-	-	epilepsy	febrile seizures, febrile seizures plus	1	9	Johan den Dunnen
00426101	FamJ	PubMed: Grinton 2022	2-generation family, 1 affected	M	-	Australia	-	-	-	-	-	epilepsy	febrile seizures plus, absence	1	1	Johan den Dunnen
00426102	FamK	PubMed: Grinton 2022	4-generation family, 10 affected (4F, 6M)	-	-	United Kingdom (Great Britain);Wales	-	-	-	-	-	epilepsy	febrile seizures, focal impaired awareness (possible temporal origin), temporal lobe epilepsy, non-acquired focal epilepsy	1	10	Johan den Dunnen
00426103	FamL	PubMed: Grinton 2022	2-generation family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	-	-	-	epilepsy	febrile seizures, myoclonic, absence, bilateral convulsive seizures; EEG generalized and focal discharges	1	1	Johan den Dunnen
00426104	FamM	PubMed: Grinton 2022	2-generation family, 1 affected	F	-	United Kingdom (Great Britain)	-	-	-	-	-	epilepsy	non-acquired focal epilepsy	1	1	Johan den Dunnen
00426105	FamN	PubMed: Grinton 2022	2-generation family, 1 affected	F	-	United States	-	-	-	-	-	epilepsy	-	1	1	Johan den Dunnen
00438379	Pat98	PubMed: Chuan 2022	-	M	-	China	-	-	-	-	-	epilepsy	HP:0001250 seizures; HP:0002353 eeg abnormality	1	1	Johan den Dunnen
00453127	Fam48Pat86	Fusco 2042, submitted	-	M	-	Italy	white	-	-	-	-	CM	-	1	1	Carmela Fusco
00453259	Fam255Pat271	Fusco 2042, submitted	-	M	-	Italy	white	-	-	-	-	CM	-	1	1	Carmela Fusco
00455767	Pat7	PubMed: Salinas 2020	patient	F	-	-	-	-	-	-	-	?	-	1	1	Johan den Dunnen
00465308	-	-	-	M	-	- (not applicable)	white	-	-	-	-	NDD	HP:0000164, HP:0001256, HP:0001382, HP:0002474, HP:0032894	1	1	Marketa Wayhelova

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Global Variome shared LOVD

SCN1B (sodium channel, voltage-gated, type I, beta ...)